Annotation Detail

Information
Associated Genes
NTRK1
Associated Variants
NTRK1 p.His604Tyr (p.H604Y) ( ENST00000368196.7, ENST00000358660.3, ENST00000392302.7, ENST00000524377.7, ENST00000674537.2 )
NTRK1 p.Gly613Val (p.G613V) ( ENST00000392302.7, ENST00000368196.7, ENST00000358660.3, ENST00000524377.7, ENST00000674537.2 )
NTRK1 p.His604Tyr (p.H604Y) ( ENST00000358660.3, ENST00000368196.7, ENST00000392302.7, ENST00000524377.7, ENST00000674537.2 )
NTRK1 p.Gly613Val (p.G613V) ( ENST00000358660.3, ENST00000368196.7, ENST00000392302.7, ENST00000524377.7, ENST00000674537.2 )
Associated Disease
familial medullary thyroid carcinoma
Source Database
DisGeNET
Description
NA
Original source reporting the Gene Disease association
CLINVAR
DisGENET score for the Gene Disease association
0.361628651232482
Year of publication
NA
Drugs