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VARIANT - TERM ANNOTATION REPORT

RGD ID: 8600036
Species: Homo sapiens
RGD Object: Variant
Symbol: CV30966
Name: NM_000516.7(GNAS):c.1A>G (p.Met1Val)
Acc ID: HP:0003118
Term: Increased circulating cortisol level
Definition: Overproduction of the hormone of cortisol by the adrenal cortex, resulting in a characteristic combination of clinical symptoms termed Cushing syndrome, with truncal obesity, a round, full face, striae atrophicae and acne, muscle weakness, and other features.
Definition Source(s): https://orcid.org/0000-0002-0538-4547
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)
CV30966 IAGP 8554872ClinVarClinVar Annotator: match by term: Cushing syndrome

PMID:2109828 PMID:21713996 PMID:25741868 PMID:28492532
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