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VARIANT - TERM ANNOTATION REPORT

RGD ID: 8692298
Species: Homo sapiens
RGD Object: Variant
Symbol: CV142267
Name: NM_002529.4(NTRK1):c.1887C>T (p.Ala629=)
Acc ID: DOID:0070146
Term: hereditary sensory neuropathy type 4
Definition: A hereditary sensory neuropathy characterized by insensitivity to pain and anhidrosis that has_material_basis_in homozygous or compound heterozygous mutation in the NTRK1 gene on chromosome 1q23. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/14272277 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/8696348 "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
CV142267 IAGP 8554872ClinVarClinVar Annotator: match by term: HSAN 4PMID:16373086 PMID:25741868 PMID:26467025 PMID:28492532
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