Annotation Detail
Information
- Associated Genes
- BRAF
- Associated Variants
-
BRAF p.Leu525Ser (p.L525S)
(
ENST00000288602.11,
ENST00000496384.7,
ENST00000644969.2,
ENST00000646891.2 )
BRAF p.Leu525Ser (p.L525S) ( ENST00000288602.11, ENST00000496384.7, ENST00000644969.2, ENST00000646891.2 ) - Associated Disease
- Cardio-facio-cutaneous syndrome
- Source Database
- DisGeNET
- Description
- A girl with cardio-facio-cutaneous (CFC) syndrome due to a BRAF gene mutation (c.1454T→C, p.L485S) experienced repetitive epileptic spasms at the corrected age of 4 months.
- Pubmed
- 20395089
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.567057488674088
- Year of publication
- 2011
Drugs