Annotation Detail
Information
- Associated Genes
- NTRK1
- Associated Variants
-
NTRK1 c.851-33T>A
(
ENST00000368196.7,
ENST00000392302.7,
ENST00000524377.7,
ENST00000358660.3,
ENST00000674537.2 )
NTRK1 c.851-33T>A ( ENST00000524377.7, ENST00000368196.7, ENST00000392302.7, ENST00000358660.3, ENST00000674537.2 ) - Associated Disease
- Hereditary insensitivity to pain with anhidrosis
- Source Database
- ClinVar
- Description
- NM_002529.4(NTRK1):c.851-33T>A AND Hereditary insensitivity to pain with anhidrosis
- ClinVar Allele ID
- 34160
- ClinVar RefSeq Alternation Syntax
- NM_001012331.2:c.851-33T>A
- ClinVar RefSeq Alternation Syntax
- NM_002529.4:c.851-33T>A
- ClinVar RefSeq Alternation Syntax
- NM_001007792.1:c.761-33T>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2024-01-17
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000020471
- ClinVar Disease
- Hereditary insensitivity to pain with anhidrosis
- Observed Origin Sample
- germline
- Observed Origin Sample
- paternal
- Pubmed
- 10982191
Drugs