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VARIANT - TERM ANNOTATION REPORT

RGD ID: 126915264
Species: Homo sapiens
RGD Object: Variant
Symbol: CV1050993
Name: NM_001130823.3(DNMT1):c.1008G>A (p.Lys336=)
Acc ID: DOID:0070158
Term: hereditary sensory neuropathy type 1E
Definition: A hereditary sensory neuropathy characterized by adult onset of progressive peripheral sensory loss, progressive hearing impairment, and early-onset dementia that has_material_basis_in heterozygous mutation in the DNMT1 gene on chromosome 19p13. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/21532572 "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)
CV1050993 IAGP 8554872ClinVarClinVar Annotator: match by term: Hereditary sensory neuropathy type IEPMID:17576681 PMID:25741868 PMID:28492532 PMID:9536098
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