NM_002529.4(NTRK1):c.99C>T (p.Ala33=) AND Hereditary insensitivity to pain with anhidrosis
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 29, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001490596.7
Allele description [Variation Report for NM_002529.4(NTRK1):c.99C>T (p.Ala33=)]
NM_002529.4(NTRK1):c.99C>T (p.Ala33=)
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
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Larimus fasciatus voucher USNM:FISH:423765 small subunit ribosomal RNA gene, par...
Larimus fasciatus voucher USNM:FISH:423765 small subunit ribosomal RNA gene, partial sequence; mitochondrialgi|2557039847|gb|OR379894.1|Nucleotide
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Cis-1,2-dihydrobenzene-1,2-diol dehydrogenase [Altererythrobacter insulae]
Cis-1,2-dihydrobenzene-1,2-diol dehydrogenase [Altererythrobacter insulae]gi|1468806609|gb|RGP41750.1||gnl|WG J|BPTFM16_02058Protein
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Last Updated: Sep 29, 2024