Annotation Detail
Information
- Associated Genes
- NTRK1
- Associated Variants
-
NTRK1 p.Arg780Gln (p.R780Q)
(
ENST00000674537.2,
ENST00000524377.7,
ENST00000368196.7,
ENST00000358660.3,
ENST00000392302.7 )
NTRK1 p.Arg780Gln (p.R780Q) ( 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.2339G>A (p.Arg780Gln) AND Hereditary insensitivity to pain with anhidrosis
- ClinVar Allele ID
- 237215
- ClinVar RefSeq Alternation Syntax
- NM_001012331.2:c.2321G>A
- ClinVar RefSeq Alternation Syntax
- NM_001007792.1:c.2231G>A
- ClinVar RefSeq Alternation Syntax
- NM_002529.4:c.2339G>A
- Clinical Significance Description
- Conflicting interpretations of pathogenicity
- Clinical Significance Last Update
- 2024-01-31
- Clinical Significance Review Status
- criteria provided, conflicting interpretations
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000545651
- ClinVar Disease
- Hereditary insensitivity to pain with anhidrosis
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
Drugs