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VARIANT - TERM ANNOTATION REPORT

RGD ID: 151860337
Species: Homo sapiens
RGD Object: Variant
Symbol: CV1385953
Name: NM_000082.4(ERCC8):c.174C>A (p.Tyr58Ter)
Acc ID: DOID:0080907
Term: Cockayne syndrome A
Definition: A Cockayne syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the group 8 excision repair cross-complementing protein on chromosome 5q11. (DO)
Definition Source(s): https://medlineplus.gov/genetics/condition/cockayne-syndrome/ "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)
CV1385953 IAGP 8554872ClinVarClinVar Annotator: match by term: ERCC8-related conditionPMID:25741868 PMID:28492532 PMID:29572252
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