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VARIANT - TERM ANNOTATION REPORT

RGD ID: 8569772
Species: Homo sapiens
RGD Object: Variant
Symbol: CV45465
Name: NM_000545.8(HNF1A):c.150C>T (p.Cys50=)
Acc ID: HP:0100651
Term: Type I diabetes mellitus
Definition: A chronic condition in which the pancreas produces little or no insulin. Type I diabetes mellitus is manifested by the sudden onset of severe hyperglycemia with rapid progression to diabetic ketoacidosis unless treated with insulin.
Definition Source(s): https://orcid.org/0000-0002-0736-9199
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)
CV45465 IAGP 8554872ClinVarClinVar Annotator: match by term: Type I diabetes mellitus

PMID:25741868 PMID:28492532 PMID:31517624 PMID:32395877 PMID:35328643 PMID:35673428
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