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NM_000539.3(RHO):c.178T>C (p.Tyr60His) AND Retinitis pigmentosa 4

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 9, 2019
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:
RCV000767357.1

Allele description [Variation Report for NM_000539.3(RHO):c.178T>C (p.Tyr60His)]

NM_000539.3(RHO):c.178T>C (p.Tyr60His)

Gene:
RHO:rhodopsin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3q22.1
Genomic location:
Preferred name:
NM_000539.3(RHO):c.178T>C (p.Tyr60His)
HGVS:
  • NC_000003.12:g.129528911T>C
  • NG_009115.1:g.5273T>C
  • NM_000539.3:c.178T>CMANE SELECT
  • NP_000530.1:p.Tyr60His
  • NC_000003.11:g.129247754T>C
Protein change:
Y60H
Links:
dbSNP: rs771007146
NCBI 1000 Genomes Browser:
rs771007146
Molecular consequence:
  • NM_000539.3:c.178T>C - 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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000897928Ocular Genomics Institute, Massachusetts Eye and Ear
no assertion criteria provided
Uncertain significance
(Jan 9, 2019) 		germlineresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From Ocular Genomics Institute, Massachusetts Eye and Ear, SCV000897928.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 30, 2024