NM_000350.2(ABCA4):c.5912T>G (p.Leu1971Arg) AND Stargardt disease

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 1, 1998
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:: RCV000008347.2

Allele description

NM_000350.2(ABCA4):c.5912T>G (p.Leu1971Arg)

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_000350.2(ABCA4):c.5912T>G (p.Leu1971Arg)

HGVS:

NC_000001.11:g.94007727A>C
NG_009073.1:g.118423T>G
NM_000350.2:c.5912T>G
NP_000341.2:p.Leu1971Arg
NC_000001.10:g.94473283A>C
P78363:p.Leu1971Arg

Protein change:

L1971R; LEU1971ARG

Links:

UniProtKB: P78363#VAR_012603; OMIM: 601691.0015; dbSNP: rs61753034

NCBI 1000 Genomes Browser:

rs61753034

Molecular consequence:

NM_000350.2:c.5912T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Stargardt disease (FFM)
Synonyms:: Stargardt's disease; Fundus flavimaculatus
Identifiers:: MedGen: C0271093; Orphanet: 827

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000028555	OMIM	no assertion criteria provided	Pathogenic (May 1, 1998)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000028555

OMIM

no assertion criteria provided

Pathogenic
(May 1, 1998)

germline

literature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies.

Rozet JM, Gerber S, Souied E, Perrault I, Châtelin S, Ghazi I, Leowski C, Dufier JL, Munnich A, Kaplan J.

Eur J Hum Genet. 1998 May-Jun;6(3):291-5. Erratum in: Eur J Hum Genet 1999 Jan;7(1):102.

PubMed [citation]

PMID:: 9781034

Details of each submission

From OMIM, SCV000028555.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

See 601691.0014 and Rozet et al. (1998).

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Dec 6, 2016

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