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NM_000539.3(RHO):c.403C>T (p.Arg135Trp)

Variation ID: Help
13028
Review status: Help
criteria provided, single submitter1 star out of maximum of 4 stars

Interpretation Help

Allele(s) Help

NM_000539.3(RHO):c.403C>T (p.Arg135Trp)

Allele ID:
28067
Variant type:
single nucleotide variant
Cytogenetic location:
3q22
Genomic location:
  • Chr3: 129530917 (on Assembly GRCh38)
  • Chr3: 129249760 (on Assembly GRCh37)
Protein change:
R135W
HGVS:
  • NG_009115.1:g.7279C>T
  • NM_000539.3:c.403C>T
  • NP_000530.1:p.Arg135Trp
  • NC_000003.12:g.129530917C>T (GRCh38)
  • NC_000003.11:g.129249760C>T (GRCh37)
  • P08100:p.Arg135Trp
Links:
NCBI 1000 Genomes Browser:
rs104893775
Molecular consequence:
NM_000539.3:c.403C>T: missense variant [Sequence Ontology SO:0001583]

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
(May 13, 2015)
criteria provided, single submitter
clinical testinggermline
    GeneDxSCV000490772.1
    Pathogenic
    (Apr 1, 1997)
    no assertion criteria providedliterature onlygermlineOMIMSCV000034149.2
    Pathogenic
    (Apr 1, 1997)
    no assertion criteria providedliterature onlygermlineOMIMSCV000034150.2
    Pathogenicno assertion criteria providedliterature onlynot provided
      Department of Ophthalmology and Visual Sciences Kyoto UniversitySCV000172544.1
      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
      GeneDxnot providednot providedgermlinenot providednot providednot providedThe R135W pathogenic variant i…Full description
      OMIMnot providednot providedgermlinenot providednot providednot provided
      SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

      Last Updated: Nov 3, 2018