NM_001007792.1(NTRK1):c.163C>A (p.Arg55Ser) AND Hereditary insensitivity to pain with anhidrosis
- Germline classification:
- Conflicting classifications of pathogenicity (4 submissions)
- Last evaluated:
- Jun 23, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000986439.17
Allele description [Variation Report for NM_001007792.1(NTRK1):c.163C>A (p.Arg55Ser)]
NM_001007792.1(NTRK1):c.163C>A (p.Arg55Ser)
Condition(s)
- Name:
- Hereditary insensitivity to pain with anhidrosis (CIPA)
- Synonyms:
- INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS; FAMILIAL DYSAUTONOMIA, TYPE II; NEUROPATHY, CONGENITAL SENSORY, WITH ANHIDROSIS; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009746; MedGen: C0020074; Orphanet: 642; OMIM: 256800
Assertion and evidence details
Last Updated: Jan 19, 2025