ClinVar Genomic variation as it relates to human health
NM_000350.3(ABCA4):c.[2588G>C;5603A>T]
Germline
Classification
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The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
(1)
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Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
Likely pathogenic
1
criteria provided, single submitter
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Variant Details
This haplotype includes the following variants
NM_000350.3(ABCA4):c.[2588G>C;5603A>T]
- Other names
- -
- Functional consequence
- -
- Links
- -
Genes
| Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
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Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
|---|---|---|---|---|---|---|
| HI score
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The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
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The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
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The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
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The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
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| ABCA4 | - | - |
GRCh38 GRCh37 |
3864 | 4234 | |
Conditions - Germline
| Condition
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The condition for this variant-condition (RCV) record in ClinVar. |
Classification
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The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
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The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
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The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
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The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
|---|---|---|---|---|
| Likely pathogenic (1) |
criteria provided, single submitter
|
Jan 30, 2021 | RCV001352969.10 |
Submissions - Germline
| Classification
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The submitted germline classification for each SCV record. (Last evaluated) |
Review status
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Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
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The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
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The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
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This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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Likely pathogenic
(Jan 30, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
Severe early-childhood-onset retinal dystrophy
Affected status: yes
Allele origin:
germline
|
Institute of Medical Molecular Genetics, University of Zurich
Accession: SCV001548046.1
First in ClinVar: Mar 28, 2021 Last updated: Mar 28, 2021 |
Method: long-range PCR
|
Germline Functional Evidence
| There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Citations for germline classification of this variant
Help| Title | Author | Journal | Year | Link |
|---|---|---|---|---|
| Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working Group. | Schmidt RJ | Genetics in medicine : official journal of the American College of Medical Genetics | 2024 | PMID: 38054408 |
| Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis. | Panneman DM | Frontiers in cell and developmental biology | 2023 | PMID: 36819107 |
| Genetic Diagnosis for 64 Patients with Inherited Retinal Disease. | Lynn J | Genes | 2022 | PMID: 36672815 |
| Genetic Diagnosis for 64 Patients with Inherited Retinal Disease. | Lynn J | Genes | 2022 | PMID: 36672815 |
| Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy. | Karali M | Scientific reports | 2022 | PMID: 36460718 |
| Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy. | Karali M | Scientific reports | 2022 | PMID: 36460718 |
| A five-year follow-up of ABCA4 carriers showing deterioration of retinal function and increased structural changes. | Kjellström U | Molecular vision | 2022 | PMID: 36338671 |
| Ophthalmic and Genetic Features of Bardet Biedl Syndrome in a German Cohort. | Nasser F | Genes | 2022 | PMID: 35886001 |
| Genetics of Inherited Retinal Diseases in Understudied Ethnic Groups in Italian Hospitals. | Maltese PE | Frontiers in genetics | 2022 | PMID: 35836572 |
| Clinical exome sequencing of 1000 families with complex immune phenotypes: Toward comprehensive genomic evaluations. | Similuk MN | The Journal of allergy and clinical immunology | 2022 | PMID: 35753512 |
| Phenotype-Based Genetic Analysis Reveals Missing Heritability of ABCA4-Related Retinopathy: Deep Intronic Variants and Copy Number Variations. | Tian L | Investigative ophthalmology & visual science | 2022 | PMID: 35657619 |
| Phenotype-Based Genetic Analysis Reveals Missing Heritability of ABCA4-Related Retinopathy: Deep Intronic Variants and Copy Number Variations. | Tian L | Investigative ophthalmology & visual science | 2022 | PMID: 35657619 |
| Panel-based next-generation sequencing identifies novel mutations in Bulgarian patients with inherited retinal dystrophies. | Kamenarova K | Molecular genetics & genomic medicine | 2022 | PMID: 35656873 |
| Genetic characteristics of 234 Italian patients with macular and cone/cone-rod dystrophy. | Falsini B | Scientific reports | 2022 | PMID: 35260635 |
| Late-onset Stargardt disease. | Alsberge JB | American journal of ophthalmology case reports | 2022 | PMID: 35243166 |
| Impact of Next Generation Sequencing in Unraveling the Genetics of 1036 Spanish Families With Inherited Macular Dystrophies. | Del Pozo-Valero M | Investigative ophthalmology & visual science | 2022 | PMID: 35119454 |
| Impact of Next Generation Sequencing in Unraveling the Genetics of 1036 Spanish Families With Inherited Macular Dystrophies. | Del Pozo-Valero M | Investigative ophthalmology & visual science | 2022 | PMID: 35119454 |
| Photoreceptor degeneration in ABCA4-associated retinopathy and its genetic correlates. | Pfau M | JCI insight | 2022 | PMID: 35076026 |
| Photoreceptor degeneration in ABCA4-associated retinopathy and its genetic correlates. | Pfau M | JCI insight | 2022 | PMID: 35076026 |
| The importance of automation in genetic diagnosis: Lessons from analyzing an inherited retinal degeneration cohort with the Mendelian Analysis Toolkit (MATK). | Zampaglione E | Genetics in medicine : official journal of the American College of Medical Genetics | 2022 | PMID: 34906470 |
| The importance of automation in genetic diagnosis: Lessons from analyzing an inherited retinal degeneration cohort with the Mendelian Analysis Toolkit (MATK). | Zampaglione E | Genetics in medicine : official journal of the American College of Medical Genetics | 2022 | PMID: 34906470 |
| Genotype-Specific Lesion Growth Rates in Stargardt Disease. | Heath Jeffery RC | Genes | 2021 | PMID: 34946930 |
| Whole genome sequencing and in vitro splice assays reveal genetic causes for inherited retinal diseases. | Fadaie Z | NPJ genomic medicine | 2021 | PMID: 34795310 |
| Effect of Whole-Genome Sequencing on the Clinical Management of Acutely Ill Infants With Suspected Genetic Disease: A Randomized Clinical Trial. | NICUSeq Study Group | JAMA pediatrics | 2021 | PMID: 34570182 |
| The genetic structure of the Turkish population reveals high levels of variation and admixture. | Kars ME | Proceedings of the National Academy of Sciences of the United States of America | 2021 | PMID: 34426522 |
| Clinical and molecular findings in patients with pattern dystrophy. | Sodi A | Ophthalmic genetics | 2021 | PMID: 34240658 |
| Generation of two induced pluripotent stem cell lines from a patient with Stargardt disease caused by compound heterozygous mutations in the ABCA4 gene. | Huang D | Stem cell research | 2021 | PMID: 34198153 |
| Molecular genetics of inherited retinal degenerations in Icelandic patients. | Thorsteinsson DA | Clinical genetics | 2021 | PMID: 33851411 |
| Peripheral pigmented lesions in ABCA4-associated retinopathy. | Al-Ani HH | Ophthalmic genetics | 2021 | PMID: 33706644 |
| Peripheral pigmented lesions in ABCA4-associated retinopathy. | Al-Ani HH | Ophthalmic genetics | 2021 | PMID: 33706644 |
| Long-Range PCR-Based NGS Applications to Diagnose Mendelian Retinal Diseases. | Maggi J | International journal of molecular sciences | 2021 | PMID: 33546218 |
| Long-Range PCR-Based NGS Applications to Diagnose Mendelian Retinal Diseases. | Maggi J | International journal of molecular sciences | 2021 | PMID: 33546218 |
| Functional Characterization of ABCA4 Missense Variants Linked to Stargardt Macular Degeneration. | Garces FA | International journal of molecular sciences | 2020 | PMID: 33375396 |
| The impact of the c.5603A>T hypomorphic variant on founder mutation screening of ABCA4 for Stargardt disease in South Africa. | Midgley N | Molecular vision | 2020 | PMID: 32913387 |
| Functional analysis and classification of homozygous and hypomorphic ABCA4 variants associated with Stargardt macular degeneration. | Curtis SB | Human mutation | 2020 | PMID: 32845050 |
| Functional analysis and classification of homozygous and hypomorphic ABCA4 variants associated with Stargardt macular degeneration. | Curtis SB | Human mutation | 2020 | PMID: 32845050 |
| Association of Sex With Frequent and Mild ABCA4 Alleles in Stargardt Disease. | Runhart EH | JAMA ophthalmology | 2020 | PMID: 32815999 |
| Association of Sex With Frequent and Mild ABCA4 Alleles in Stargardt Disease. | Runhart EH | JAMA ophthalmology | 2020 | PMID: 32815999 |
| Genotype-Phenotype Correlations in a Spanish Cohort of 506 Families With Biallelic ABCA4 Pathogenic Variants. | Del Pozo-Valero M | American journal of ophthalmology | 2020 | PMID: 32619608 |
| Genotype-Phenotype Correlations in a Spanish Cohort of 506 Families With Biallelic ABCA4 Pathogenic Variants. | Del Pozo-Valero M | American journal of ophthalmology | 2020 | PMID: 32619608 |
| Whole-genome sequencing of patients with rare diseases in a national health system. | Turro E | Nature | 2020 | PMID: 32581362 |
| Genetic architecture of inherited retinal degeneration in Germany: A large cohort study from a single diagnostic center over a 9-year period. | Weisschuh N | Human mutation | 2020 | PMID: 32531858 |
| Genetic architecture of inherited retinal degeneration in Germany: A large cohort study from a single diagnostic center over a 9-year period. | Weisschuh N | Human mutation | 2020 | PMID: 32531858 |
| The genetic architecture of Stargardt macular dystrophy (STGD1): a longitudinal 40-year study in a genetic isolate. | Green JS | European journal of human genetics : EJHG | 2020 | PMID: 32467599 |
| The genetic architecture of Stargardt macular dystrophy (STGD1): a longitudinal 40-year study in a genetic isolate. | Green JS | European journal of human genetics : EJHG | 2020 | PMID: 32467599 |
| Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics. | Khan M | Genetics in medicine : official journal of the American College of Medical Genetics | 2020 | PMID: 32307445 |
| Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics. | Khan M | Genetics in medicine : official journal of the American College of Medical Genetics | 2020 | PMID: 32307445 |
| Clinical spectrum, genetic complexity and therapeutic approaches for retinal disease caused by ABCA4 mutations. | Cremers FPM | Progress in retinal and eye research | 2020 | PMID: 32278709 |
| Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations. | Zampaglione E | Genetics in medicine : official journal of the American College of Medical Genetics | 2020 | PMID: 32037395 |
| Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations. | Zampaglione E | Genetics in medicine : official journal of the American College of Medical Genetics | 2020 | PMID: 32037395 |
| Expanding the Clinical and Molecular Heterogeneity of Nonsyndromic Inherited Retinal Dystrophies. | Rodríguez-Muñoz A | The Journal of molecular diagnostics : JMD | 2020 | PMID: 32036094 |
| Precision medicine integrating whole-genome sequencing, comprehensive metabolomics, and advanced imaging. | Hou YC | Proceedings of the National Academy of Sciences of the United States of America | 2020 | PMID: 31980526 |
| Worldwide carrier frequency and genetic prevalence of autosomal recessive inherited retinal diseases. | Hanany M | Proceedings of the National Academy of Sciences of the United States of America | 2020 | PMID: 31964843 |
| Worldwide carrier frequency and genetic prevalence of autosomal recessive inherited retinal diseases. | Hanany M | Proceedings of the National Academy of Sciences of the United States of America | 2020 | PMID: 31964843 |
| Prevalence of mutations in inherited retinal diseases: A comparison between the United States and India. | Yohe S | Molecular genetics & genomic medicine | 2020 | PMID: 31816670 |
| A nationwide genetic analysis of inherited retinal diseases in Israel as assessed by the Israeli inherited retinal disease consortium (IIRDC). | Sharon D | Human mutation | 2020 | PMID: 31456290 |
| A nationwide genetic analysis of inherited retinal diseases in Israel as assessed by the Israeli inherited retinal disease consortium (IIRDC). | Sharon D | Human mutation | 2020 | PMID: 31456290 |
| Inherited retinal disease in Norway - a characterization of current clinical and genetic knowledge. | Holtan JP | Acta ophthalmologica | 2020 | PMID: 31429209 |
| Inherited retinal disease in Norway - a characterization of current clinical and genetic knowledge. | Holtan JP | Acta ophthalmologica | 2020 | PMID: 31429209 |
| Late-Onset Stargardt Disease Due to Mild, Deep-Intronic ABCA4 Alleles. | Runhart EH | Investigative ophthalmology & visual science | 2019 | PMID: 31618761 |
| Highly Variable Disease Courses in Siblings with Stargardt Disease. | Valkenburg D | Ophthalmology | 2019 | PMID: 31522899 |
| Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. | Jespersgaard C | Scientific reports | 2019 | PMID: 30718709 |
| ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants. | Bauwens M | Genetics in medicine : official journal of the American College of Medical Genetics | 2019 | PMID: 30670881 |
| Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides. | Sangermano R | Genetics in medicine : official journal of the American College of Medical Genetics | 2019 | PMID: 30643219 |
| Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides. | Sangermano R | Genetics in medicine : official journal of the American College of Medical Genetics | 2019 | PMID: 30643219 |
| Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project. | Ceyhan-Birsoy O | American journal of human genetics | 2019 | PMID: 30609409 |
| CLINICAL CHARACTERIZATION OF STARGARDT DISEASE PATIENTS WITH THE p.N1868I ABCA4 MUTATION. | Collison FT | Retina (Philadelphia, Pa.) | 2019 | PMID: 30204727 |
| Detailed genetic characteristics of an international large cohort of patients with Stargardt disease: ProgStar study report 8. | Fujinami K | The British journal of ophthalmology | 2019 | PMID: 29925512 |
| Detailed genetic characteristics of an international large cohort of patients with Stargardt disease: ProgStar study report 8. | Fujinami K | The British journal of ophthalmology | 2019 | PMID: 29925512 |
| Author Response: Penetrance of the ABCA4 p.Asn1868Ile Allele in Stargardt Disease. | Cremers FPM | Investigative ophthalmology & visual science | 2018 | PMID: 30480704 |
| Penetrance of the ABCA4 p.Asn1868Ile Allele in Stargardt Disease. | Allikmets R | Investigative ophthalmology & visual science | 2018 | PMID: 30480703 |
| Genetic screening for macular dystrophies in patients clinically diagnosed with dry age-related macular degeneration. | Kersten E | Clinical genetics | 2018 | PMID: 30215852 |
| The Common ABCA4 Variant p.Asn1868Ile Shows Nonpenetrance and Variable Expression of Stargardt Disease When Present in trans With Severe Variants. | Runhart EH | Investigative ophthalmology & visual science | 2018 | PMID: 29971439 |
| Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy. | Birtel J | Scientific reports | 2018 | PMID: 29555955 |
| Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy. | Birtel J | Scientific reports | 2018 | PMID: 29555955 |
| The Personal Genome Project Canada: findings from whole genome sequences of the inaugural 56 participants. | Reuter MS | CMAJ : Canadian Medical Association journal = journal de l'Association medicale canadienne | 2018 | PMID: 29431110 |
| Early Patterns of Macular Degeneration in ABCA4-Associated Retinopathy. | Khan KN | Ophthalmology | 2018 | PMID: 29310964 |
| ABCA4 midigenes reveal the full splice spectrum of all reported noncanonical splice site variants in Stargardt disease. | Sangermano R | Genome research | 2018 | PMID: 29162642 |
| Clinically Focused Molecular Investigation of 1000 Consecutive Families with Inherited Retinal Disease. | Stone EM | Ophthalmology | 2017 | PMID: 28559085 |
| Frequent hypomorphic alleles account for a significant fraction of ABCA4 disease and distinguish it from age-related macular degeneration. | Zernant J | Journal of medical genetics | 2017 | PMID: 28446513 |
| Frequent hypomorphic alleles account for a significant fraction of ABCA4 disease and distinguish it from age-related macular degeneration. | Zernant J | Journal of medical genetics | 2017 | PMID: 28446513 |
| Panel-Based Clinical Genetic Testing in 85 Children with Inherited Retinal Disease. | Taylor RL | Ophthalmology | 2017 | PMID: 28341476 |
| Mutation Spectrum of the ABCA4 Gene in 335 Stargardt Disease Patients From a Multicenter German Cohort-Impact of Selected Deep Intronic Variants and Common SNPs. | Schulz HL | Investigative ophthalmology & visual science | 2017 | PMID: 28118664 |
| Mutation Spectrum of the ABCA4 Gene in 335 Stargardt Disease Patients From a Multicenter German Cohort-Impact of Selected Deep Intronic Variants and Common SNPs. | Schulz HL | Investigative ophthalmology & visual science | 2017 | PMID: 28118664 |
| In Silico Functional Meta-Analysis of 5,962 ABCA4 Variants in 3,928 Retinal Dystrophy Cases. | Cornelis SS | Human mutation | 2017 | PMID: 28044389 |
| Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease. | Carss KJ | American journal of human genetics | 2017 | PMID: 28041643 |
| The intronic ABCA4 c.5461-10T>C variant, frequently seen in patients with Stargardt disease, causes splice defects and reduced ABCA4 protein level. | Aukrust I | Acta ophthalmologica | 2017 | PMID: 27775217 |
| Screening of ABCA4 Gene in a Chinese Cohort With Stargardt Disease or Cone-Rod Dystrophy With a Report on 85 Novel Mutations. | Jiang F | Investigative ophthalmology & visual science | 2016 | PMID: 26780318 |
| Cone and rod loss in Stargardt disease revealed by adaptive optics scanning light ophthalmoscopy. | Song H | JAMA ophthalmology | 2015 | PMID: 26247787 |
| Quantitative fundus autofluorescence distinguishes ABCA4-associated and non-ABCA4-associated bull's-eye maculopathy. | Duncker T | Ophthalmology | 2015 | PMID: 25283059 |
| Disease variants in genomes of 44 centenarians. | Freudenberg-Hua Y | Molecular genetics & genomic medicine | 2014 | PMID: 25333069 |
| Dependable and efficient clinical utility of target capture-based deep sequencing in molecular diagnosis of retinitis pigmentosa. | Wang J | Investigative ophthalmology & visual science | 2014 | PMID: 25097241 |
| Molecular diagnostic testing by eyeGENE: analysis of patients with hereditary retinal dystrophy phenotypes involving central vision loss. | Alapati A | Investigative ophthalmology & visual science | 2014 | PMID: 25082885 |
| Generalized choriocapillaris dystrophy, a distinct phenotype in the spectrum of ABCA4-associated retinopathies. | Bertelsen M | Investigative ophthalmology & visual science | 2014 | PMID: 24713488 |
| Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements. | Wang F | Human genetics | 2014 | PMID: 24154662 |
| Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies. | Eisenberger T | PloS one | 2013 | PMID: 24265693 |
| Personalized genomic disease risk of volunteers. | Gonzalez-Garay ML | Proceedings of the National Academy of Sciences of the United States of America | 2013 | PMID: 24082139 |
| Stargardt disease: towards developing a model to predict phenotype. | Heathfield L | European journal of human genetics : EJHG | 2013 | PMID: 23695285 |
| Retinoid binding properties of nucleotide binding domain 1 of the Stargardt disease-associated ATP binding cassette (ABC) transporter, ABCA4. | Biswas-Fiss EE | The Journal of biological chemistry | 2012 | PMID: 23144455 |
| Clinical course, genetic etiology, and visual outcome in cone and cone-rod dystrophy. | Thiadens AA | Ophthalmology | 2012 | PMID: 22264887 |
| Further associations between mutations and polymorphisms in the ABCA4 gene: clinical implication of allelic variants and their role as protector/risk factors. | Aguirre-Lamban J | Investigative ophthalmology & visual science | 2011 | PMID: 21330655 |
| A map of human genome variation from population-scale sequencing. | 1000 Genomes Project Consortium | Nature | 2010 | PMID: 20981092 |
| Frequency of ABCA4 mutations in 278 Spanish controls: an insight into the prevalence of autosomal recessive Stargardt disease. | Riveiro-Alvarez R | The British journal of ophthalmology | 2009 | PMID: 18977788 |
| ABCA4 gene analysis in patients with autosomal recessive cone and cone rod dystrophies. | Kitiratschky VB | European journal of human genetics : EJHG | 2008 | PMID: 18285826 |
| Single-nucleotide polymorphisms in NAGNAG acceptors are highly predictive for variations of alternative splicing. | Hiller M | American journal of human genetics | 2006 | PMID: 16400609 |
| Widespread occurrence of alternative splicing at NAGNAG acceptors contributes to proteome plasticity. | Hiller M | Nature genetics | 2004 | PMID: 15516930 |
| Phenotypes of 16 Stargardt macular dystrophy/fundus flavimaculatus patients with known ABCA4 mutations and evaluation of genotype-phenotype correlation. | Gerth C | Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie | 2002 | PMID: 12192456 |
| Phenotypic spectrum of autosomal recessive cone-rod dystrophies caused by mutations in the ABCA4 (ABCR) gene. | Klevering BJ | Investigative ophthalmology & visual science | 2002 | PMID: 12037008 |
| The ABCA4 2588G>C Stargardt mutation: single origin and increasing frequency from South-West to North-East Europe. | Maugeri A | European journal of human genetics : EJHG | 2002 | PMID: 11973624 |
| Biochemical defects in retina-specific human ATP binding cassette transporter nucleotide binding domain 1 mutants associated with macular degeneration. | Suárez T | The Journal of biological chemistry | 2002 | PMID: 11919200 |
| Nucleotide binding domain 1 of the human retinal ABC transporter functions as a general ribonucleotidase. | Biswas EE | Biochemistry | 2001 | PMID: 11444963 |
| An analysis of allelic variation in the ABCA4 gene. | Webster AR | Investigative ophthalmology & visual science | 2001 | PMID: 11328725 |
| Biochemical defects in ABCR protein variants associated with human retinopathies. | Sun H | Nature genetics | 2000 | PMID: 11017087 |
| Biochemical defects in ABCR protein variants associated with human retinopathies. | Sun H | Nature genetics | 2000 | PMID: 11017087 |
| Further evidence for an association of ABCR alleles with age-related macular degeneration. The International ABCR Screening Consortium. | Allikmets R | American journal of human genetics | 2000 | PMID: 10880298 |
| An analysis of ABCR mutations in British patients with recessive retinal dystrophies. | Papaioannou M | Investigative ophthalmology & visual science | 2000 | PMID: 10634594 |
| A novel mutation in the ABCR gene in four patients with autosomal recessive Stargardt disease. | Zhang K | American journal of ophthalmology | 1999 | PMID: 10612508 |
| The 2588G-->C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt disease. | Maugeri A | American journal of human genetics | 1999 | PMID: 10090887 |
| A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. | Allikmets R | Nature genetics | 1997 | PMID: 9054934 |
| The activity of the Na+/H+ antiporter in cultured cardiac cells is dependent on the culture conditions used. | Green RD | FEBS letters | 1986 | PMID: 3002862 |
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Text-mined citations for this variant ...
HelpRecord last updated Feb 01, 2025
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.