NM_000539.3(RHO):c.491C>T (p.Ala164Val) AND Congenital stationary night blindness autosomal dominant 1

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 30, 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:: RCV000477900.3

Allele description [Variation Report for NM_000539.3(RHO):c.491C>T (p.Ala164Val)]

NM_000539.3(RHO):c.491C>T (p.Ala164Val)

Gene:

RHO:rhodopsin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3q22.1

Genomic location:

Preferred name:

NM_000539.3(RHO):c.491C>T (p.Ala164Val)

HGVS:

NC_000003.12:g.129531005C>T
NG_009115.1:g.7367C>T
NM_000539.3:c.491C>TMANE SELECT
NP_000530.1:p.Ala164Val
NC_000003.11:g.129249848C>T

Protein change:

A164V

Links:

dbSNP: rs104893793

NCBI 1000 Genomes Browser:

rs104893793

Molecular consequence:

NM_000539.3:c.491C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Congenital stationary night blindness autosomal dominant 1
Synonyms:: NIGHT BLINDNESS, CONGENITAL STATIONARY, RHODOPSIN-RELATED
Identifiers:: MONDO: MONDO:0012498; MedGen: C1864869; Orphanet: 215; OMIM: 610445

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000536724	Division of Human Genetics, Children's Hospital of Philadelphia - CSER-PediSeq	no assertion criteria provided	Pathogenic (Sep 30, 2015)	maternal	research	PubMed (7) [See all records that cite these PMIDs] 8088850, 7981701, 21094163, 21219898, 17488458, 9380676, 12871954

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000536724

Division of Human Genetics, Children's Hospital of Philadelphia - CSER-PediSeq

no assertion criteria provided

Pathogenic
(Sep 30, 2015)

maternal

research

PubMed (7)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	maternal	unknown	not provided	not provided	not provided	not provided	not provided	research

Citations

PubMed

Further screening of the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa.

Vaithinathan R, Berson EL, Dryja TP.

Genomics. 1994 May 15;21(2):461-3. No abstract available.

PubMed [citation]

PMID:: 8088850

Three novel rhodopsin mutations (C110F, L131P, A164V) in patients with autosomal dominant retinitis pigmentosa.

Fuchs S, Kranich H, Denton MJ, Zrenner E, Bhattacharya SS, Humphries P, Gal A.

Hum Mol Genet. 1994 Jul;3(7):1203. No abstract available.

PubMed [citation]

PMID:: 7981701

See all PubMed Citations (7)

Details of each submission

From Division of Human Genetics, Children's Hospital of Philadelphia - CSER-PediSeq, SCV000536724.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	PubMed (7)

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

Last Updated: Sep 16, 2024

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