Annotation Detail
Information
- Associated Genes
- NTRK1 LOC129931648
- Associated Variants
-
NTRK1 p.Gln9Ter (p.Q9*)
(
ENST00000368196.7,
ENST00000392302.7,
ENST00000524377.7,
ENST00000358660.3,
ENST00000674537.2,
ENST00000675461.1 )
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.Gln9Ter (p.Q9*) ( ENST00000675461.1, 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 ) - Associated Disease
- Hereditary insensitivity to pain with anhidrosis
- Source Database
- ClinVar
- Description
- NM_001012331.1(NTRK1):c.[25C>T;1792C>T;1820G>T] AND Hereditary insensitivity to pain with anhidrosis
- ClinVar Allele ID
- 38397
- ClinVar Allele ID
- 27343
- ClinVar Allele ID
- 27347
- ClinVar RefSeq Alternation Syntax
- NM_001012331.2:c.1792C>T
- ClinVar RefSeq Alternation Syntax
- NM_002529.4:c.25C>T
- ClinVar RefSeq Alternation Syntax
- NM_001007792.1:c.1730G>T
- ClinVar RefSeq Alternation Syntax
- NM_001007792.1:c.1702C>T
- ClinVar RefSeq Alternation Syntax
- NM_001012331.2:c.1820G>T
- ClinVar RefSeq Alternation Syntax
- NM_001012331.2:c.25C>T
- ClinVar RefSeq Alternation Syntax
- NM_002529.4:c.1838G>T
- ClinVar RefSeq Alternation Syntax
- NM_001007792.1:c.123-3395C>T
- ClinVar RefSeq Alternation Syntax
- NM_002529.4:c.1810C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2001-02-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000030667
- ClinVar Disease
- Hereditary insensitivity to pain with anhidrosis
- Observed Origin Sample
- germline
- Pubmed
- 10330344
- Pubmed
- 11159935
Drugs