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NM_000329.2(RPE65):c.1543C>T (p.Arg515Trp)

Variation ID: Help
13120
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Allele(s) Help

NM_000329.2(RPE65):c.1543C>T (p.Arg515Trp)

Allele ID:
28159
Variant type:
single nucleotide variant
Cytogenetic location:
1p31.3
Genomic location:
  • Chr1: 68429835 (on Assembly GRCh38)
  • Chr1: 68895518 (on Assembly GRCh37)
Protein change:
R515W
HGVS:
  • NG_008472.1:g.25125C>T
  • NM_000329.2:c.1543C>T
  • NP_000320.1:p.Arg515Trp
  • NC_000001.11:g.68429835G>A (GRCh38)
  • NC_000001.10:g.68895518G>A (GRCh37)
  • Q16518:p.Arg515Trp
Links:
NCBI 1000 Genomes Browser:
rs121917745
Molecular consequence:
NM_000329.2:c.1543C>T: missense variant [Sequence Ontology SO:0001583]
Allele frequency:
ExAC 0.00002 (A)

Variant frequency in dbGaP Help

No dbGaP data has been submitted for this variant.

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Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
Pathogenic
(Dec 1, 2004)
no assertion criteria providedliterature onlygermlineOMIMSCV000034246.2
Pathogenic
(Dec 1, 2004)
no assertion criteria providedliterature onlygermlineOMIMSCV000034247.2
Pathogenicno assertion criteria providedliterature onlynot provided
    Department of Ophthalmology and Visual Sciences Kyoto UniversitySCV000172526.1
    not providedno assertion providedliterature onlynot provided
      Retina InternationalSCV000117313.1
      SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
      Total for all submittersnot providednot providedgermline, not providednot providednot provided
      Department of Ophthalmology and Visual Sciences Kyoto Universitynot providednot providednot providednot providednot providednot providedConverted during submission to…Full description
      OMIMnot providednot providedgermlinenot providednot providednot provided
      Retina Internationalnot providednot providednot providednot providednot providednot providednot provided
      SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

      Last Updated: Nov 3, 2018