NM_000539.3(RHO):c.482G>A (p.Trp161Ter) AND Retinitis pigmentosa 4, autosomal recessive

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 1, 2011
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:: RCV000022756.25

Allele description [Variation Report for NM_000539.3(RHO):c.482G>A (p.Trp161Ter)]

NM_000539.3(RHO):c.482G>A (p.Trp161Ter)

Gene:

RHO:rhodopsin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3q22.1

Genomic location:

Preferred name:

NM_000539.3(RHO):c.482G>A (p.Trp161Ter)

HGVS:

NC_000003.12:g.129530996G>A
NG_009115.1:g.7358G>A
NM_000539.3:c.482G>AMANE SELECT
NP_000530.1:p.Trp161Ter
NC_000003.11:g.129249839G>A

Protein change:

W161*; TRP161TER

Links:

OMIM: 180380.0045; dbSNP: rs869320618

NCBI 1000 Genomes Browser:

rs869320618

Molecular consequence:

NM_000539.3:c.482G>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Retinitis pigmentosa 4, autosomal recessive
Identifiers:: MedGen: C4016366

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000044045	OMIM	no assertion criteria provided	Pathogenic (Mar 1, 2011)	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

SCV000044045

OMIM

no assertion criteria provided

Pathogenic
(Mar 1, 2011)

germline

literature only

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

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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

A novel nonsense mutation in rhodopsin gene in two Indonesian families with autosomal recessive retinitis pigmentosa.

Kartasasmita A, Fujiki K, Iskandar E, Sovani I, Fujimaki T, Murakami A.

Ophthalmic Genet. 2011 Mar;32(1):57-63. doi: 10.3109/13816810.2010.535892. Epub 2010 Dec 21.

PubMed [citation]

PMID:: 21174529

Details of each submission

From OMIM, SCV000044045.3

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

Description

In affected members of 2 Indonesian families segregating autosomal recessive retinitis pigmentosa-4 (RP4; 613731), Kartasasmita et al. (2011) identified homozygosity for a 482G-A transition in exon 2 of the RHO gene, resulting in trp161-to-ter (W161X) substitution. Haplotype analysis suggested that this is a founder mutation.

#	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: Sep 29, 2024

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