Annotation Detail
Information
- Associated Genes
- NTRK1
- Associated Variants
-
NTRK1 p.Arg780Gln (p.R780Q)
(
ENST00000674537.2,
ENST00000524377.7,
ENST00000368196.7,
ENST00000358660.3,
ENST00000392302.7 )
NTRK1 p.Arg780Pro (p.R780P) ( ENST00000674537.2, ENST00000368196.7, ENST00000524377.7, ENST00000392302.7, ENST00000358660.3 )
NTRK1 p.Arg780Gln (p.R780Q) ( ENST00000358660.3, ENST00000368196.7, ENST00000392302.7, ENST00000524377.7, ENST00000674537.2 )
NTRK1 p.Arg780Pro (p.R780P) ( ENST00000358660.3, ENST00000368196.7, ENST00000392302.7, ENST00000524377.7, ENST00000674537.2 ) - Associated Disease
- HSAN Type IV
- Source Database
- DisGeNET
- Description
- A novel NTRK1 mutation associated with congenital insensitivity to pain with anhidrosis.
- Pubmed
- 10090906
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.450314791139052
- Year of publication
- 1999
Drugs