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VARIANT - TERM ANNOTATION REPORT

RGD ID: 11599749
Species: Homo sapiens
RGD Object: Variant
Symbol: CV307598
Name: NM_001715.3(BLK):c.753A>G (p.Gln251=)
Acc ID: DOID:0111109
Term: maturity-onset diabetes of the young type 11
Definition: A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the BLK gene on chromosome 8p23-p22. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/19667185 "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)
CV307598 IAGP 8554872ClinVarClinVar Annotator: match by term: Maturity-onset diabetes of the young type 11PMID:18204098 PMID:19667185 PMID:24023612 PMID:25741868 PMID:28492532 PMID:31670388 PMID:32313195
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