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NM_000539.3(RHO):c.1040C>T (p.Pro347Leu)

Variation ID: Help
13014
Review status: Help
criteria provided, multiple submitters, no conflicts2 stars out of maximum of 4 stars

Interpretation Help

Allele(s) Help

NM_000539.3(RHO):c.1040C>T (p.Pro347Leu)

Allele ID:
28053
Variant type:
single nucleotide variant
Cytogenetic location:
3q22
Genomic location:
  • Chr3: 129533711 (on Assembly GRCh38)
  • Chr3: 129252554 (on Assembly GRCh37)
Protein change:
P347L
HGVS:
  • NG_009115.1:g.10073C>T
  • NM_000539.3:c.1040C>T
  • NP_000530.1:p.Pro347Leu
  • NC_000003.12:g.129533711C>T (GRCh38)
  • NC_000003.11:g.129252554C>T (GRCh37)
  • P08100:p.Pro347Leu
Links:
NCBI 1000 Genomes Browser:
rs29001566
Molecular consequence:
NM_000539.3:c.1040C>T: missense variant [Sequence Ontology SO:0001583]
Allele frequency:
ExAC 0.00001 (T)

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
(Apr 5, 2017)
criteria provided, single submitter
clinical testinggermline
    GeneDxSCV000577308.3
    Pathogenic
    (Jan 1, 2017)
    criteria provided, single submitter
    clinical testingunknown
      Centre for Mendelian Genomics,University Medical Centre LjubljanaSCV000747405.1
      Pathogenic
      (Sep 1, 2010)
      no assertion criteria providedliterature onlygermlineOMIMSCV000034135.2
      Likely pathogenic
      (Jan 1, 2015)
      no assertion criteria providedresearchunknownNIHR Bioresource Rare Diseases,University of CambridgeSCV000598749.1
      SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
      Total for all submittersnot provided1germline, unknownEuropeannot provided
      Centre for Mendelian Genomics,University Medical Centre Ljubljananot providednot providedunknownnot providednot providednot providednot provided
      GeneDxnot providednot providedgermlinenot providednot providednot providedThe P347L variant in the RHO g…Full description
      NIHR Bioresource Rare Diseases,University of Cambridgenot provided1unknownEuropeannot providednot provided
      OMIMnot providednot providedgermlinenot providednot providednot provided
      SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

      Last Updated: Nov 3, 2018