Annotation Detail

Information
Associated Genes
RB1
Associated Variants
RB1 p.Arg661Trp (p.R661W) ( ENST00000267163.6, ENST00000650461.1, ENST00000713856.1, ENST00000713857.1, ENST00000713858.1 )
RB1 p.Arg661Trp (p.R661W) ( ENST00000267163.6, ENST00000650461.1, ENST00000713856.1, ENST00000713857.1, ENST00000713858.1 )
Associated Disease
Vulvar adenocarcinoma of mammary gland type
Source Database
ClinVar
Description
NM_000321.3(RB1):c.1981C>T (p.Arg661Trp) AND Vulvar adenocarcinoma of mammary gland type
ClinVar Allele ID
28126
ClinVar RefSeq Alternation Syntax
NM_000321.3:c.1981C>T
Clinical Significance Description
Likely pathogenic
Clinical Significance Review Status
no assertion criteria provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000510137
ClinVar Disease
Vulvar adenocarcinoma of mammary gland type
Observed Origin Sample
somatic
Drugs