Annotation Detail

Information
Associated Genes
PARP1
Associated Variants
PARP1 p.Val762Ala (p.V762A) ( ENST00000366794.10, ENST00000677203.1 )
PARP1 p.Val762Ala (p.V762A) ( ENST00000366794.10, ENST00000677203.1 )
Associated Disease
not provided
Source Database
ClinVar
Description
NM_001618.4(PARP1):c.2285T>C (p.Val762Ala) AND not provided
ClinVar Allele ID
1250560
ClinVar RefSeq Alternation Syntax
NM_001618.4:c.2285T>C
Clinical Significance Description
Benign
Clinical Significance Last Update
2019-10-08
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV001674523
ClinVar Disease
not provided
Observed Origin Sample
germline
Drugs