Annotation Detail

Information
Associated Genes
BDNF
Associated Variants
BDNF MUTATION
BDNF MUTATION
BDNF p.Val148Met (p.V148M) ( ENST00000532997.5, ENST00000395981.7, ENST00000356660.9, ENST00000314915.6, ENST00000439476.6, ENST00000530861.5, ENST00000395983.7, ENST00000395986.6, ENST00000525950.5, ENST00000533246.5, ENST00000418212.5, ENST00000525528.1, ENST00000533131.5, ENST00000395978.7, ENST00000438929.5 )
BDNF p.Val148Met (p.V148M) ( ENST00000314915.6, ENST00000356660.9, ENST00000395978.7, ENST00000395981.7, ENST00000395983.7, ENST00000395986.6, ENST00000418212.5, ENST00000438929.5, ENST00000439476.6, ENST00000525528.1, ENST00000525950.5, ENST00000530861.5, ENST00000532997.5, ENST00000533131.5, ENST00000533246.5 )
Associated Disease
Mental disorders
Source Database
DisGeNET
Description
Several polymorphisms in BDNF have been reported and studied in psychiatric disorders but the most frequent is the p.Val66Met (rs6265G > A) single nucleotide polymorphism (SNP), with functional effects on the intracellular trafficking and secretion of the protein.
Pubmed
19603419
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0168293960689788
Year of publication
2010
Drugs