Annotation Detail
Information
- Associated Genes
- PROC
- Associated Variants
-
BRAF p.Lys641Glu (p.K641E)
(
ENST00000496384.7,
ENST00000288602.11,
ENST00000644969.2,
ENST00000646891.2 )
BRAF p.Lys641Gln (p.K641Q) ( ENST00000288602.11, ENST00000496384.7, ENST00000644969.2, ENST00000646891.2 )
BRAF p.Lys641Glu (p.K641E) ( ENST00000288602.11, ENST00000496384.7, ENST00000644969.2, ENST00000646891.2 )
BRAF p.Lys641Gln (p.K641Q) ( ENST00000288602.11, ENST00000496384.7, ENST00000644969.2, ENST00000646891.2 ) - Associated Disease
- Traditional Serrated Adenoma
- Source Database
- DisGeNET
- Description
- We report a case with a very rare deletion mutation of BRAF (c.1799-1801delTGA, p.Val600_Lys601delinsGlu) in a serrated adenoma; the patient has familial adenomatous polyposis with a germline mutation of the APC gene (c.3578delA, p.Gln1193ArgfsX1264).
- Pubmed
- 17696956
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00081432561624091
- Year of publication
- 2007
Drugs