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NM_000350.3(ABCA4):c.1532G>A (p.Arg511His) AND Severe early-childhood-onset retinal dystrophy

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jan 1, 2015
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000505101.2

Allele description [Variation Report for NM_000350.3(ABCA4):c.1532G>A (p.Arg511His)]

NM_000350.3(ABCA4):c.1532G>A (p.Arg511His)

Gene:
ABCA4:ATP binding cassette subfamily A member 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p22.1
Genomic location:
Preferred name:
NM_000350.3(ABCA4):c.1532G>A (p.Arg511His)
HGVS:
  • NC_000001.11:g.94077712C>T
  • NG_009073.1:g.48438G>A
  • NG_009073.2:g.48436G>A
  • NM_000350.3:c.1532G>AMANE SELECT
  • NM_001425324.1:c.1532G>A
  • NP_000341.2:p.Arg511His
  • NP_001412253.1:p.Arg511His
  • NC_000001.10:g.94543268C>T
  • NM_000350.2:c.1532G>A
Protein change:
R511H
Links:
dbSNP: rs140482171
NCBI 1000 Genomes Browser:
rs140482171
Molecular consequence:
  • NM_000350.3:c.1532G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001425324.1:c.1532G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Severe early-childhood-onset retinal dystrophy (STGD1)
Synonyms:
MACULAR DYSTROPHY WITH FLECKS, TYPE 1; STGD; Stargardt macular dystrophy; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009549; MeSH: D000080362; MedGen: C1855465; Orphanet: 827; OMIM: 248200

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000598934NIHR Bioresource Rare Diseases, University of Cambridge
no assertion criteria provided
Likely pathogenic
(Jan 1, 2015) 		unknownresearch

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Europeanunknownyes1not providednot provided1not providedresearch

Citations

PubMed

Correlation between photoreceptor layer integrity and visual function in patients with Stargardt disease: implications for gene therapy.

Testa F, Rossi S, Sodi A, Passerini I, Di Iorio V, Della Corte M, Banfi S, Surace EM, Menchini U, Auricchio A, Simonelli F.

Invest Ophthalmol Vis Sci. 2012 Jul 3;53(8):4409-15. doi: 10.1167/iovs.11-8201.

PubMed [citation]
PMID:
22661472
PMCID:
PMC4625823

Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.

Carss KJ, Arno G, Erwood M, Stephens J, Sanchis-Juan A, Hull S, Megy K, Grozeva D, Dewhurst E, Malka S, Plagnol V, Penkett C, Stirrups K, Rizzo R, Wright G, Josifova D, Bitner-Glindzicz M, Scott RH, Clement E, Allen L, Armstrong R, Brady AF, et al.

Am J Hum Genet. 2017 Jan 5;100(1):75-90. doi: 10.1016/j.ajhg.2016.12.003. Epub 2016 Dec 29.

PubMed [citation]
PMID:
28041643
PMCID:
PMC5223092

Details of each submission

From NIHR Bioresource Rare Diseases, University of Cambridge, SCV000598934.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1European1not providednot providedresearch PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyes1not providednot provided1not providednot providednot provided

Last Updated: Sep 29, 2024