NM_000350.3(ABCA4):c.3602T>G (p.Leu1201Arg) AND Cone-rod dystrophy 3

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

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jun 1, 2003
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:: RCV000008361.2

Allele description

NM_000350.3(ABCA4):c.3602T>G (p.Leu1201Arg)

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.3602T>G (p.Leu1201Arg)

HGVS:

NC_000001.11:g.94040048A>C
NG_009073.1:g.86102T>G
NM_000350.3:c.3602T>GMANE SELECT
NP_000341.2:p.Leu1201Arg
NC_000001.10:g.94505604A>C
NM_000350.2:c.3602T>G
P78363:p.Leu1201Arg

Protein change:

L1201R; LEU1201ARG

Links:

UniProtKB: P78363#VAR_008440; OMIM: 601691.0025; dbSNP: rs61750126

NCBI 1000 Genomes Browser:

rs61750126

Molecular consequence:

NM_000350.3:c.3602T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Cone-rod dystrophy 3 (CORD3)
Identifiers:: MONDO: MONDO:0011395; MedGen: C1858806; Orphanet: 1872; OMIM: 604116

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000028569	OMIM	no assertion criteria provided	Pathogenic (Jun 1, 2003)	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

SCV000028569

OMIM

no assertion criteria provided

Pathogenic
(Jun 1, 2003)

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

ABCA4 gene sequence variations in patients with autosomal recessive cone-rod dystrophy.

Fishman GA, Stone EM, Eliason DA, Taylor CM, Lindeman M, Derlacki DJ.

Arch Ophthalmol. 2003 Jun;121(6):851-5.

PubMed [citation]

PMID:: 12796258

Details of each submission

From OMIM, SCV000028569.1

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

Description

In 2 patients with cone-rod dystrophy (CORD3; 604116) with comparatively mild funduscopically apparent pigmentary changes, Fishman et al. (2003) identified a heterozygous leu1201-to-arg mutation (L1201R) in the ABCA4 gene.

#	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: Jun 18, 2022

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