Annotation Detail
Information
- Associated Genes
- NTRK1
- Associated Variants
-
NTRK1 p.Glu70AlafsTer16 (p.E70Afs*16)
(
ENST00000368196.7,
ENST00000524377.7,
ENST00000392302.7,
ENST00000358660.3,
ENST00000674537.2,
ENST00000675461.1 )
NTRK1 p.Glu70AlafsTer16 (p.E70Afs*16) ( ENST00000358660.3, ENST00000368196.7, ENST00000392302.7, ENST00000524377.7, ENST00000674537.2, ENST00000675461.1 ) - Associated Disease
- Hereditary insensitivity to pain with anhidrosis
- Source Database
- ClinVar
- Description
- NM_002529.4(NTRK1):c.207_208del (p.Glu70fs) AND Hereditary insensitivity to pain with anhidrosis
- ClinVar Allele ID
- 38875
- ClinVar RefSeq Alternation Syntax
- NM_001007792.1:c.123-3213_123-3212del
- ClinVar RefSeq Alternation Syntax
- NM_002529.4:c.207_208del
- ClinVar RefSeq Alternation Syntax
- NM_001012331.2:c.207_208del
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-03-27
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000022807
- ClinVar Disease
- Hereditary insensitivity to pain with anhidrosis
- Observed Origin Sample
- germline
- Pubmed
- 19250380
Drugs