Annotation Detail
Information
- Associated Genes
- NTRK1
- Associated Variants
-
NTRK1 p.Glu70AlafsTer16 (p.E70Afs*16)
(
ENST00000368196.7,
ENST00000524377.7,
ENST00000392302.7,
ENST00000358660.3,
ENST00000674537.2,
ENST00000675461.1 )
NTRK1 p.Arg554GlyfsTer104 (p.R554Gfs*104) ( ENST00000358660.3, ENST00000368196.7, ENST00000392302.7, ENST00000524377.7, ENST00000674537.2 )
NTRK1 p.Glu70AlafsTer16 (p.E70Afs*16) ( ENST00000358660.3, ENST00000368196.7, ENST00000392302.7, ENST00000524377.7, ENST00000674537.2, ENST00000675461.1 )
NTRK1 p.Arg554GlyfsTer104 (p.R554Gfs*104) ( ENST00000358660.3, ENST00000368196.7, ENST00000392302.7, ENST00000524377.7, ENST00000674537.2 )
NTRK1 p.Gln9Ter (p.Q9*) ( ENST00000368196.7, ENST00000392302.7, ENST00000524377.7, ENST00000358660.3, ENST00000674537.2, ENST00000675461.1 )
NTRK1 c.360-2A>C ( ENST00000674537.2, ENST00000368196.7, ENST00000524377.7, ENST00000392302.7, ENST00000358660.3 )
NTRK1 c.717+4A>T ( ENST00000674537.2, ENST00000358660.3, ENST00000392302.7, ENST00000524377.7, ENST00000368196.7 )
NTRK1 c.851-33T>A ( ENST00000368196.7, ENST00000392302.7, ENST00000524377.7, ENST00000358660.3, ENST00000674537.2 )
NTRK1 p.Arg347Pro (p.R347P) ( ENST00000358660.3, ENST00000392302.7, ENST00000524377.7, ENST00000368196.7, ENST00000674537.2 )
NTRK1 p.Tyr359Cys (p.Y359C) ( ENST00000674537.2, ENST00000358660.3, ENST00000392302.7, ENST00000524377.7, ENST00000368196.7 )
NTRK1 p.Gly517Glu (p.G517E) ( ENST00000524377.7, ENST00000368196.7, ENST00000358660.3, ENST00000392302.7, ENST00000674537.2 )
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.Met587Val (p.M587V) ( ENST00000368196.7, ENST00000392302.7, ENST00000358660.3, ENST00000524377.7, ENST00000674537.2 )
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.Asp674Tyr (p.D674Y) ( ENST00000358660.3, ENST00000368196.7, ENST00000524377.7, ENST00000392302.7, ENST00000674537.2 )
NTRK1 p.Pro695Leu (p.P695L) ( ENST00000674537.2, ENST00000358660.3, ENST00000368196.7, ENST00000524377.7, ENST00000392302.7 )
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.Gln9Ter (p.Q9*) ( ENST00000675461.1, ENST00000358660.3, ENST00000368196.7, ENST00000392302.7, ENST00000524377.7, ENST00000674537.2 )
NTRK1 c.360-2A>C ( ENST00000358660.3, ENST00000368196.7, ENST00000392302.7, ENST00000524377.7, ENST00000674537.2 )
NTRK1 c.717+4A>T ( ENST00000358660.3, ENST00000368196.7, ENST00000392302.7, ENST00000524377.7, ENST00000674537.2 )
NTRK1 c.851-33T>A ( ENST00000524377.7, ENST00000368196.7, ENST00000392302.7, ENST00000358660.3, ENST00000674537.2 )
NTRK1 p.Arg347Pro (p.R347P) ( ENST00000358660.3, ENST00000368196.7, ENST00000392302.7, ENST00000524377.7, ENST00000674537.2 )
NTRK1 p.Tyr359Cys (p.Y359C) ( ENST00000358660.3, ENST00000368196.7, ENST00000392302.7, ENST00000524377.7, ENST00000674537.2 )
NTRK1 p.Gly517Glu (p.G517E) ( ENST00000358660.3, ENST00000368196.7, ENST00000392302.7, ENST00000524377.7, 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 )
NTRK1 p.Met587Val (p.M587V) ( ENST00000358660.3, ENST00000368196.7, ENST00000392302.7, 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 )
NTRK1 p.Asp674Tyr (p.D674Y) ( ENST00000358660.3, ENST00000368196.7, ENST00000392302.7, ENST00000524377.7, ENST00000674537.2 )
NTRK1 p.Pro695Leu (p.P695L) ( ENST00000358660.3, ENST00000368196.7, ENST00000392302.7, ENST00000524377.7, ENST00000674537.2 )
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 )
NTRK1 p.Leu622ProfsTer11 (p.L622Pfs*11)
NTRK1 p.Leu622ProfsTer11 (p.L622Pfs*11) - Associated Disease
- HSAN Type IV
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.450314791139052
- Year of publication
- NA
Drugs