Annotation Detail

Information
Associated Genes
BRCA2
Associated Variants
BRCA2 p.Asn372His (p.N372H) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
BRCA2 p.Asn372His (p.N372H) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
Associated Disease
Malignant neoplasm of ovary
Source Database
DisGeNET
Description
We have examined whether BRCA2 N372H or common amino acid-changing polymorphisms in BRCA1 predispose to ovarian cancer.
Pubmed
14555511
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.28
Year of publication
2003
Drugs