Annotation Detail
Information
- Associated Genes
- BRCA2
- Associated Variants
-
BRCA2 p.Arg2336His (p.R2336H)
(
ENST00000380152.8,
ENST00000530893.7,
ENST00000544455.6,
ENST00000700202.2,
ENST00000713678.1,
ENST00000713680.1 )
BRCA2 p.Arg2336Pro (p.R2336P) ( ENST00000713680.1, ENST00000713678.1, ENST00000700202.2, ENST00000544455.6, ENST00000380152.8, ENST00000530893.7 )
BRCA2 p.Arg2336Leu (p.R2336L) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Arg2336His (p.R2336H) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Arg2336Pro (p.R2336P) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Arg2336Leu (p.R2336L) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 ) - Associated Disease
- FANCONI ANEMIA, COMPLEMENTATION GROUP D1
- Source Database
- DisGeNET
- Description
- Clinical and molecular features associated with biallelic mutations in FANCD1/BRCA2.
- Pubmed
- 16825431
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.56027144187208
- Year of publication
- 2007
Drugs