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VARIANT - TERM ANNOTATION REPORT

RGD ID: 38484358
Species: Homo sapiens
RGD Object: Variant
Symbol: CV931946
Name: NM_001349253.2(SCN11A):c.5234G>A (p.Arg1745Gln)
Acc ID: DOID:0070149
Term: hereditary sensory and autonomic neuropathy type 7
Definition: A hereditary sensory neuropathy characterized by insensitivity to pain, mild muscle weakness, delayed motor development, hyperhidrosis and gastrointestinal dysfunction that has_material_basis_in heterozygous mutation in the SCN11A gene on chromosome 3p22. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/24036948 "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)
CV931946 IAGP 8554872ClinVarClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type VIIPMID:28492532
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