Annotation Detail
Information
- Associated Genes
- BRAF
- Associated Variants
-
BRAF p.Lys539Glu (p.K539E)
(
ENST00000288602.11,
ENST00000496384.7,
ENST00000644969.2,
ENST00000646891.2 )
BRAF p.Lys539Glu (p.K539E) ( ENST00000288602.11, ENST00000646891.2, ENST00000496384.7, ENST00000644969.2 ) - Associated Disease
- Cardio-facio-cutaneous syndrome
- Source Database
- DisGeNET
- Description
- In one patient with NS, we also identified a mutation, BRAF K499E, that has previously been reported in patients with CFC.
- Pubmed
- 18456719
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.567057488674088
- Year of publication
- 2008
Drugs