Annotation Detail
Information
- Associated Genes
- BRAF
- Associated Variants
-
BRAF p.Ala246Pro (p.A246P)
(
ENST00000288602.11,
ENST00000496384.7,
ENST00000644969.2,
ENST00000646891.2 )
BRAF p.Ala246Pro (p.A246P) ( ENST00000288602.11, ENST00000496384.7, ENST00000644969.2, ENST00000646891.2 ) - Associated Disease
- Cardio-facio-cutaneous syndrome
- Source Database
- DisGeNET
- Description
- Sequencing analysis showed a germline p.A246P (c.736G>C) mutation in BRAF reported earlier in CFC syndrome.
- Pubmed
- 20523244
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.567057488674088
- Year of publication
- 2011
Drugs