NM_002529.4(NTRK1):c.2124C>T (p.Ser708=) AND Hereditary insensitivity to pain with anhidrosis
- Germline classification:
- Likely benign (2 submissions)
- Last evaluated:
- Oct 26, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001280010.8
Allele description [Variation Report for NM_002529.4(NTRK1):c.2124C>T (p.Ser708=)]
NM_002529.4(NTRK1):c.2124C>T (p.Ser708=)
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 13, 2025