Annotation Detail
Information
- Associated Genes
- BRAF
- Associated Variants
-
BRAF p.Asn621Asp (p.N621D)
(
ENST00000288602.11,
ENST00000496384.7,
ENST00000644969.2,
ENST00000646891.2 )
BRAF p.Asn621His (p.N621H) ( ENST00000288602.11, ENST00000496384.7, ENST00000644969.2, ENST00000646891.2 )
BRAF p.Asn621Asp (p.N621D) ( ENST00000288602.11, ENST00000496384.7, ENST00000644969.2, ENST00000646891.2 )
BRAF p.Asn621His (p.N621H) ( ENST00000288602.11, ENST00000496384.7, ENST00000644969.2, ENST00000646891.2 ) - Associated Disease
- Cardio-facio-cutaneous syndrome
- Source Database
- DisGeNET
- Description
- In this case report, we present a male CFCS patient with tight Achilles tendons with a de-novo heterozygote N581D mutation in the BRAF gene detected by DNA sequence analysis.
- Pubmed
- 22876591
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.567057488674088
- Year of publication
- 2012
Drugs