NM_002529.4(NTRK1):c.2047-11G>A AND Hereditary insensitivity to pain with anhidrosis
- Germline classification:
- Benign/Likely benign (4 submissions)
- Last evaluated:
- Feb 1, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000377964.12
Allele description [Variation Report for NM_002529.4(NTRK1):c.2047-11G>A]
NM_002529.4(NTRK1):c.2047-11G>A
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
-
protein zer-1 homolog isoform 1 [Homo sapiens]
protein zer-1 homolog isoform 1 [Homo sapiens]gi|33589814|ref|NP_006327.2|Protein
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See more...Assertion and evidence details
Last Updated: Feb 28, 2024