NM_000539.3(RHO):c.511C>T (p.Pro171Ser) AND Retinitis pigmentosa 4

Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 15, 1994
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:: RCV000013925.24

Allele description [Variation Report for NM_000539.3(RHO):c.511C>T (p.Pro171Ser)]

NM_000539.3(RHO):c.511C>T (p.Pro171Ser)

Gene:

RHO:rhodopsin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3q22.1

Genomic location:

Preferred name:

NM_000539.3(RHO):c.511C>T (p.Pro171Ser)

HGVS:

NC_000003.12:g.129531025C>T
NG_009115.1:g.7387C>T
NM_000539.3:c.511C>TMANE SELECT
NP_000530.1:p.Pro171Ser
NC_000003.11:g.129249868C>T
P08100:p.Pro171Ser

Protein change:

P171S; PRO171SER

Links:

UniProtKB: P08100#VAR_004805; OMIM: 180380.0038; dbSNP: rs104893794

NCBI 1000 Genomes Browser:

rs104893794

Molecular consequence:

NM_000539.3:c.511C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Retinitis pigmentosa 4 (RP4)
Synonyms:: RP 4; RETINITIS PIGMENTOSA, RHODOPSIN-RELATED
Identifiers:: MONDO: MONDO:0013395; MedGen: C3151001; Orphanet: 791; OMIM: 613731

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000034172	OMIM	no assertion criteria provided	Pathogenic (May 15, 1994)	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

SCV000034172

OMIM

no assertion criteria provided

Pathogenic
(May 15, 1994)

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

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

Details of each submission

From OMIM, SCV000034172.2

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

Description

In a study of 122 patients with autosomal dominant retinitis pigmentosa (RP4; 613731), Vaithinathan et al. (1994) identified a C-to-T substitution in the RHO gene, leading to a change from proline to serine at position 171.

#	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: Feb 20, 2024

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