NM_206933.4(USH2A):c.490G>T (p.Val164Phe) AND Retinitis pigmentosa

Clinical significance:Likely pathogenic

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000132713.1

Allele description [Variation Report for NM_206933.4(USH2A):c.490G>T (p.Val164Phe)]

NM_206933.4(USH2A):c.490G>T (p.Val164Phe)

Gene:
USH2A:usherin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q41
Genomic location:
Preferred name:
NM_206933.4(USH2A):c.490G>T (p.Val164Phe)
HGVS:
  • NC_000001.11:g.216418675C>A
  • NG_009497.1:g.9722G>T
  • NG_009497.2:g.9774G>T
  • NM_007123.6:c.490G>T
  • NM_206933.4:c.490G>TMANE SELECT
  • NP_009054.6:p.Val164Phe
  • NP_996816.3:p.Val164Phe
  • NC_000001.10:g.216592017C>A
  • NC_000001.10:g.216592017C>A
  • NM_206933.2:c.490G>T
Protein change:
V164F
Links:
dbSNP: rs527236123
NCBI 1000 Genomes Browser:
rs527236123
Molecular consequence:
  • NM_007123.6:c.490G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_206933.4:c.490G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Retinitis pigmentosa (RP)
Synonyms:
Tapetoretinal degeneration; Retinotapetal degeneration
Identifiers:
MONDO: MONDO:0019200; MeSH: D012174; MedGen: C0035334; Orphanet: 791; OMIM: 268000; OMIM: PS268000; Human Phenotype Ontology: HP:0000547

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000172666Department of Ophthalmology and Visual Sciences Kyoto Universityno assertion criteria providedprobable-pathogenicnot providednot provided

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providednot providednot providednot providednot provided1not providedliterature only

Details of each submission

From Department of Ophthalmology and Visual Sciences Kyoto University, SCV000172666.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot providednot provided

Description

Converted during submission to Likely pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot provided1not providednot providednot providednot providednot providednot provided

Last Updated: Oct 25, 2021

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