Annotation Detail
Information
- Associated Genes
- BRCA2
- Associated Variants
-
BRCA2 p.Val220IlefsTer4 (p.V220Ifs*4)
(
ENST00000530893.7,
ENST00000544455.6,
ENST00000380152.8,
ENST00000700202.2,
ENST00000713678.1,
ENST00000713680.1 )
BRCA2 p.Val220IlefsTer4 (p.V220Ifs*4) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Ser1882Ter (p.S1882*) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Ser1882Ter (p.S1882*) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Ser1882Ter (p.S1882*) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Ser1882Ter (p.S1882*) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 ) - Associated Disease
- medulloblastoma
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.240814325616241
- Year of publication
- NA
Drugs