NM_002529.4(NTRK1):c.103C>T (p.Pro35Ser) AND Hereditary insensitivity to pain with anhidrosis
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- Jul 13, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001050651.7
Allele description [Variation Report for NM_002529.4(NTRK1):c.103C>T (p.Pro35Ser)]
NM_002529.4(NTRK1):c.103C>T (p.Pro35Ser)
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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PREDICTED: Xiphophorus couchianus epithelial membrane protein 3-like (LOC1141415...
PREDICTED: Xiphophorus couchianus epithelial membrane protein 3-like (LOC114141538), transcript variant X3, mRNAgi|1570429713|ref|XM_028012130.1|Nucleotide
-
Bovine viral diarrhea virus partial 5'UTR region, genotype BVDV1a, strain MRI280...
Bovine viral diarrhea virus partial 5'UTR region, genotype BVDV1a, strain MRI2805gi|1220256907|emb|LT902912.1|Nucleotide
-
Bovine viral diarrhea virus partial 5'UTR region, genotype BVDV1b, strain MRI281...
Bovine viral diarrhea virus partial 5'UTR region, genotype BVDV1b, strain MRI2816gi|1220256915|emb|LT902920.1|Nucleotide
-
Bovine viral diarrhea virus partial 5'UTR region, genotype BVDV1a, strain MRI283...
Bovine viral diarrhea virus partial 5'UTR region, genotype BVDV1a, strain MRI2839gi|1220256934|emb|LT902939.1|Nucleotide
-
Bovine viral diarrhea virus partial 5'UTR region, genotype BVDV1a, strain MRI286...
Bovine viral diarrhea virus partial 5'UTR region, genotype BVDV1a, strain MRI2868gi|1220256955|emb|LT902960.1|Nucleotide
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Last Updated: Sep 29, 2024