Annotation Detail
Information
- Associated Genes
- NTRK1
- Associated Variants
-
NTRK1 p.Gly577Ser (p.G577S)
(
ENST00000674537.2,
ENST00000392302.7,
ENST00000358660.3,
ENST00000368196.7,
ENST00000524377.7 )
NTRK1 p.Gly577Arg (p.G577R) ( ENST00000524377.7, ENST00000368196.7, ENST00000392302.7, ENST00000358660.3, ENST00000674537.2 )
NTRK1 p.Gly577Ser (p.G577S) ( ENST00000358660.3, ENST00000368196.7, ENST00000392302.7, ENST00000524377.7, ENST00000674537.2 )
NTRK1 p.Gly577Arg (p.G577R) ( ENST00000358660.3, ENST00000368196.7, ENST00000392302.7, ENST00000524377.7, ENST00000674537.2 ) - Associated Disease
- HSAN Type IV
- Source Database
- DisGeNET
- Description
- To define the defect of NTRK1 in CIPA patients, we have introduced one of the previously reported mutations (Gly571Arg) into both the NTRK1 and the TRK-T3 oncogene cDNAs.
- Pubmed
- 10567924
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.450314791139052
- Year of publication
- 2000
Drugs