Annotation Detail
Information
- Associated Genes
- CD34
- Associated Variants
-
BRAF p.Val640Gly (p.V640G)
(
ENST00000288602.11,
ENST00000496384.7,
ENST00000644969.2,
ENST00000646891.2 )
BRAF p.Val640Ala (p.V640A) ( ENST00000288602.11, ENST00000496384.7, ENST00000644969.2, ENST00000646891.2 )
BRAF p.Val640Glu (p.V640E) ( ENST00000288602.11, ENST00000496384.7, ENST00000644969.2, ENST00000646891.2 )
BRAF p.Val640Gly (p.V640G) ( ENST00000288602.11, ENST00000496384.7, ENST00000644969.2, ENST00000646891.2 )
BRAF p.Val640Ala (p.V640A) ( ENST00000288602.11, ENST00000496384.7, ENST00000644969.2, ENST00000646891.2 )
BRAF p.Val640Glu (p.V640E) ( ENST00000288602.11, ENST00000496384.7, ENST00000644969.2, ENST00000646891.2 ) - Associated Disease
- pleomorphic xanthoastrocytoma
- Source Database
- DisGeNET
- Description
- Although this glioma was difficult to clarify, diagnosis of pleomorphic xanthoastrocytoma with anaplastic feature was suggested based on the association of some pathological feature (eosinophilic granular bodies, reticulin network and diffuse CD34 expression) and the BRAF V600E mutation.
- Pubmed
- 24857351
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000542883744160607
- Year of publication
- 2014
Drugs