Annotation Detail
Information
- Associated Genes
- PARP1
- Associated Variants
-
PARP1 p.Lys940Arg (p.K940R)
(
ENST00000677203.1,
ENST00000366794.10 )
PARP1 p.Lys940Arg (p.K940R) ( ENST00000366794.10, ENST00000677203.1 ) - Associated Disease
- PARP1-related disorder
- Source Database
- ClinVar
- Description
- NM_001618.4(PARP1):c.2819A>G (p.Lys940Arg) AND PARP1-related disorder
- ClinVar Allele ID
- 3192670
- ClinVar RefSeq Alternation Syntax
- NM_001618.4:c.2819A>G
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2019-11-16
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003931880
- ClinVar Disease
- PARP1-related disorder
- Observed Origin Sample
- germline
Drugs