Annotation Detail

Information
Associated Genes
RNASEL
Associated Variants
RNASEL p.Arg462Gln (p.R462Q) ( ENST00000539397.1, ENST00000367559.7 )
RNASEL p.Arg462Gln (p.R462Q) ( ENST00000367559.7, ENST00000539397.1 )
Associated Disease
Prostate cancer, hereditary, 1
Source Database
ClinVar
Description
NM_021133.4(RNASEL):c.1385G>A (p.Arg462Gln) AND Prostate cancer, hereditary, 1
ClinVar Allele ID
28045
ClinVar RefSeq Alternation Syntax
NM_021133.4:c.1385G>A
Clinical Significance Description
Uncertain significance
Clinical Significance Last Update
2022-08-17
Clinical Significance Review Status
no assertion criteria provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV002279713
ClinVar Disease
Prostate cancer, hereditary, 1
Observed Origin Sample
germline
Drugs