Annotation Detail
Information
- Associated Genes
- BRCA2
- Associated Variants
-
BRCA2 p.Ser163ValfsTer9 (p.S163Vfs*9)
(
ENST00000713678.1,
ENST00000713680.1,
ENST00000700202.2,
ENST00000530893.7,
ENST00000544455.6,
ENST00000380152.8 )
BRCA2 p.Ser163ValfsTer9 (p.S163Vfs*9) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 ) - Associated Disease
- Fanconi anemia
- Source Database
- ClinVar
- Description
- NM_000059.4(BRCA2):c.486del (p.Ser163fs) AND Fanconi anemia
- ClinVar Allele ID
- 248910
- ClinVar RefSeq Alternation Syntax
- NM_000059.4:c.486del
- Clinical Significance Description
- Pathogenic
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001610547
- ClinVar Disease
- Fanconi anemia
- Observed Origin Sample
- germline
Drugs