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VARIANT - TERM ANNOTATION REPORT

RGD ID: 155664131
Species: Homo sapiens
RGD Object: Variant
Symbol: CV1789768
Name: NM_000162.5(GCK):c.1150G>A (p.Ala384Thr)
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)
CV1789768 IAGP 8554872ClinVarClinVar Annotator: match by term: Maturity onset diabetes mellitus in youngPMID:27269892 PMID:29510678 PMID:30257192 PMID:31197960 PMID:32375122 PMID:33129248 PMID:9662401
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