NM_002529.4(NTRK1):c.656delinsTT (p.Gly219fs) AND Hereditary insensitivity to pain with anhidrosis
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jan 1, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002211040.1
Allele description [Variation Report for NM_002529.4(NTRK1):c.656delinsTT (p.Gly219fs)]
NM_002529.4(NTRK1):c.656delinsTT (p.Gly219fs)
Condition(s)
- Name:
- Hereditary insensitivity to pain with anhidrosis (CIPA)
- Synonyms:
- FAMILIAL DYSAUTONOMIA, TYPE II; Insensitivity to pain, congenital, with anhidrosis; 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: Dec 24, 2023