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VARIANT - TERM ANNOTATION REPORT

RGD ID: 151771189
Species: Homo sapiens
RGD Object: Variant
Symbol: CV1410870
Name: NM_021619.3(PRDM12):c.20C>T (p.Pro7Leu)
Acc ID: DOID:0070153
Term: hereditary sensory and autonomic neuropathy type 8
Definition: A hereditary sensory neuropathy characterized by congenital insensitivity to pain and decreased sweating and tear production that has_material_basis_in homozygous mutation in the PRDM12 gene on chromosome 9q34. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/26005867 "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)
CV1410870 IAGP 8554872ClinVarClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type VIIIPMID:28492532
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