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NM_000539.3(RHO):c.158C>G (p.Pro53Arg)

Variation ID: Help
13037
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Allele(s) Help

NM_000539.3(RHO):c.158C>G (p.Pro53Arg)

Allele ID:
28076
Variant type:
single nucleotide variant
Cytogenetic location:
3q22
Genomic location:
  • Chr3: 129528891 (on Assembly GRCh38)
  • Chr3: 129247734 (on Assembly GRCh37)
Protein change:
P53R
HGVS:
  • NG_009115.1:g.5253C>G
  • NM_000539.3:c.158C>G
  • NP_000530.1:p.Pro53Arg
  • NC_000003.12:g.129528891C>G (GRCh38)
  • NC_000003.11:g.129247734C>G (GRCh37)
  • P08100:p.Pro53Arg
Links:
NCBI 1000 Genomes Browser:
rs28933395
Molecular consequence:
NM_000539.3:c.158C>G: 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
(Aug 1, 1993)
no assertion criteria providedliterature onlygermlineOMIMSCV000034159.2
Likely pathogenic
(Jan 1, 2015)
no assertion criteria providedresearchunknownNIHR Bioresource Rare Diseases,University of CambridgeSCV000598750.1
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
Total for all submittersnot provided1germline, unknownEuropeannot provided
NIHR Bioresource Rare Diseases,University of Cambridgenot provided1unknownEuropeannot providednot provided
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Oct 24, 2018