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VARIANT - TERM ANNOTATION REPORT

RGD ID: 21066589
Species: Homo sapiens
RGD Object: Variant
Symbol: CV793841
Name: NM_175914.5(HNF4A):c.457G>A (p.Asp153Asn)
Acc ID: DOID:0050524
Term: maturity-onset diabetes of the young
Definition: A diabetes mellitus that has_material_basis_in autosomal dominant inheritance of mutations in the MODY genes impacting beta-cell function, typically occurring before 25 years of age and caused by primary insulin secretion defects. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Maturity_onset_diabetes_of_the_young "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)
CV793841 IAGP 8554872ClinVarClinVar Annotator: match by term: Maturity onset diabetes mellitus in youngPMID:17563455 PMID:18268044 PMID:26467025 PMID:32583173 PMID:35052457 PMID:35118593
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