Annotation Detail
Information
- Associated Genes
- NTRK1
- Associated Variants
-
NTRK1 p.Arg347Pro (p.R347P)
(
ENST00000358660.3,
ENST00000392302.7,
ENST00000524377.7,
ENST00000368196.7,
ENST00000674537.2 )
NTRK1 p.Arg347Pro (p.R347P) ( 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.1040G>C (p.Arg347Pro) AND Hereditary insensitivity to pain with anhidrosis
- ClinVar Allele ID
- 205721
- ClinVar RefSeq Alternation Syntax
- NM_001012331.2:c.1040G>C
- ClinVar RefSeq Alternation Syntax
- NM_002529.4:c.1040G>C
- ClinVar RefSeq Alternation Syntax
- NM_001007792.1:c.950G>C
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2014-06-10
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000191114
- ClinVar Disease
- Hereditary insensitivity to pain with anhidrosis
- Observed Origin Sample
- paternal
Drugs