Annotation Detail
Information
- Associated Genes
- BRCA2
- Associated Variants
-
BRCA2 p.Glu3002Lys (p.E3002K)
(
ENST00000713678.1,
ENST00000713680.1,
ENST00000380152.8,
ENST00000544455.6,
ENST00000700202.2,
ENST00000530893.7 )
BRCA2 p.Glu3002Lys (p.E3002K) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 ) - Source Database
- ClinVar
- Description
- NM_000059.4(BRCA2):c.9004G>A (p.Glu3002Lys) AND Malignant tumor of breast
- ClinVar Allele ID
- 46757
- ClinVar RefSeq Alternation Syntax
- NM_000059.4:c.9004G>A
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001353997
- Observed Origin Sample
- unknown
Drugs