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VARIANT - TERM ANNOTATION REPORT

RGD ID: 8568192
Species: Homo sapiens
RGD Object: Variant
Symbol: CV39169
Name: NM_005257.6(GATA6):c.1366C>T (p.Arg456Cys)
Acc ID: DOID:0111733
Term: pancreatic hypoplasia-diabetes-congenital heart disease syndrome
Definition: A syndrome characterized by partial pancreatic agenesis, diabetes mellitus, and heart anomalies that has_material_basis_in heterozygous mutation in GATA6 on chromosome 18q11.2. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/22158542 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/8071961 "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)
CV39169 IAGP 8554872ClinVarClinVar Annotator: match by term: Pancreatic hypoplasia-diabetes-congenital heart disease syndromePMID:22158542 PMID:24385578 PMID:25741868
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