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VARIANT - TERM ANNOTATION REPORT

RGD ID: 156418533
Species: Homo sapiens
RGD Object: Variant
Symbol: CV1922289
Name: NM_015459.5(ATL3):c.1286G>A (p.Cys429Tyr)
Acc ID: DOID:0070154
Term: hereditary sensory neuropathy type 1F
Definition: A hereditary sensory and autonomic neuropathy type 1 characterized by distal sensory impairment becomes apparent during the second or third decade of life, resulting in painless ulceration of the feet with poor healing, which can progress to osteomyelitis, bone destruction, and amputation that has_material_basis_in heterozygous mutation in the ATL3 gene on chromosome 11q13. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/24459106 "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)
CV1922289 IAGP 8554872ClinVarClinVar Annotator: match by term: Neuropathy, hereditary sensory, type 1FPMID:28492532
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