Annotation Detail
Information
- Associated Genes
- BRCA2
- Associated Variants
-
BRCA2 p.Glu1308Ter (p.E1308*)
(
ENST00000713678.1,
ENST00000713680.1,
ENST00000700202.2,
ENST00000530893.7,
ENST00000380152.8,
ENST00000544455.6 )
BRCA2 p.Glu1308Ter (p.E1308*) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 ) - Associated Disease
- medulloblastoma
- Source Database
- DisGeNET
- Description
- Two other kindreds each contained a Fanconi anemia-afflicted child who developed medulloblastoma; one child was of Latin American ancestry and a compound heterozygote for BRCA2*I2490T/ 5301insA and the other was African American and a compound heterozygote for BRCA2*Q3066X/E1308X.
- Pubmed
- 14559878
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.240814325616241
- Year of publication
- 2003
Drugs