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VARIANT - TERM ANNOTATION REPORT

RGD ID: 13837045
Species: Homo sapiens
RGD Object: Variant
Symbol: CV588329
Name: NM_000458.4(HNF1B):c.1591G>C (p.Ala531Pro)
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)
CV588329 IAGP 8554872ClinVarClinVar Annotator: match by term: Maturity onset diabetes mellitus in youngPMID:19639018 PMID:24897035 PMID:25536396 PMID:25741167 PMID:26340261 PMID:27615128 PMID:28215227 PMID:28492532 PMID:33434175
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