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.Ser1982ArgfsTer22 (p.S1982Rfs*22) ( ENST00000700202.2, ENST00000713678.1, ENST00000713680.1, ENST00000530893.7, ENST00000544455.6, ENST00000380152.8 )
BRCA2 p.Val220IlefsTer4 (p.V220Ifs*4) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Ser1982ArgfsTer22 (p.S1982Rfs*22) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 c.631+1G>A ( ENST00000713678.1, ENST00000713680.1, ENST00000700202.2, ENST00000530893.7, ENST00000380152.8, ENST00000544455.6 )
BRCA2 c.631+2T>C ( ENST00000700202.2, ENST00000713680.1, ENST00000713678.1, ENST00000530893.7, ENST00000380152.8, ENST00000544455.6 )
BRCA2 c.631+2T>G ( ENST00000380152.8, ENST00000544455.6, ENST00000530893.7, ENST00000713678.1, ENST00000713680.1, ENST00000700202.2 )
BRCA2 p.Glu1550Gln (p.E1550Q) ( ENST00000530893.7, ENST00000380152.8, ENST00000544455.6, ENST00000713678.1, ENST00000713680.1, ENST00000700202.2 )
BRCA2 p.Glu1550Ter (p.E1550*) ( ENST00000380152.8, ENST00000544455.6, ENST00000530893.7, ENST00000713678.1, ENST00000713680.1, ENST00000700202.2 )
BRCA2 p.Tyr1655Ter (p.Y1655*) ( ENST00000544455.6, ENST00000380152.8, ENST00000713678.1, ENST00000530893.7, ENST00000700202.2, ENST00000713680.1 )
BRCA2 p.Tyr1655Ter (p.Y1655*) ( ENST00000530893.7, ENST00000544455.6, ENST00000380152.8, ENST00000713678.1, ENST00000713680.1, ENST00000700202.2 )
BRCA2 p.Leu2510Pro (p.L2510P) ( ENST00000713680.1, ENST00000713678.1, ENST00000700202.2, ENST00000380152.8, ENST00000544455.6, ENST00000530893.7 )
BRCA2 p.Leu2740Ter (p.L2740*) ( ENST00000700202.2, ENST00000713680.1, ENST00000713678.1, ENST00000530893.7, ENST00000544455.6, ENST00000380152.8 )
BRCA2 p.Ala2911Gly (p.A2911G) ( ENST00000700202.2, ENST00000713680.1, ENST00000713678.1, ENST00000380152.8, ENST00000544455.6, ENST00000530893.7 )
BRCA2 p.Ala2911Val (p.A2911V) ( ENST00000544455.6, ENST00000380152.8, ENST00000530893.7, ENST00000700202.2, ENST00000713680.1, ENST00000713678.1 )
BRCA2 p.Gln3066Glu (p.Q3066E) ( ENST00000544455.6, ENST00000380152.8, ENST00000530893.7, ENST00000713680.1, ENST00000713678.1, ENST00000700202.2 )
BRCA2 p.Gln3066Ter (p.Q3066*) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 c.631+1G>A ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 c.631+2T>C ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 c.631+2T>G ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Glu1550Gln (p.E1550Q) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Glu1550Ter (p.E1550*) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Tyr1655Ter (p.Y1655*) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Tyr1655Ter (p.Y1655*) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Leu2510Pro (p.L2510P) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Leu2740Ter (p.L2740*) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Ala2911Gly (p.A2911G) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Ala2911Val (p.A2911V) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Gln3066Glu (p.Q3066E) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Gln3066Ter (p.Q3066*) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 ) - Associated Disease
- FANCONI ANEMIA, COMPLEMENTATION GROUP D1
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.56027144187208
- Year of publication
- NA
Drugs