Annotation Detail
Information
- Associated Genes
- NTRK1
- Associated Variants
-
NTRK1 p.Tyr359Cys (p.Y359C)
(
ENST00000674537.2,
ENST00000358660.3,
ENST00000392302.7,
ENST00000524377.7,
ENST00000368196.7 )
NTRK1 p.Tyr359Cys (p.Y359C) ( ENST00000358660.3, ENST00000368196.7, ENST00000392302.7, ENST00000524377.7, ENST00000674537.2 ) - Associated Disease
- Hereditary insensitivity to pain with anhidrosis
- Source Database
- ClinVar
- Description
- NM_002529.4(NTRK1):c.1076A>G (p.Tyr359Cys) AND Hereditary insensitivity to pain with anhidrosis
- ClinVar Allele ID
- 27350
- ClinVar RefSeq Alternation Syntax
- NM_001007792.1:c.986A>G
- ClinVar RefSeq Alternation Syntax
- NM_001012331.2:c.1076A>G
- ClinVar RefSeq Alternation Syntax
- NM_002529.4:c.1076A>G
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2002-08-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000013104
- ClinVar Disease
- Hereditary insensitivity to pain with anhidrosis
- Observed Origin Sample
- germline
- Pubmed
- 3472625
- Pubmed
- 77656
- Pubmed
- 11310631
- Pubmed
- 12210794
Drugs