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VARIANT - TERM ANNOTATION REPORT

RGD ID: 153346320
Species: Homo sapiens
RGD Object: Variant
Symbol: CV1691649
Name: NM_000490.5(AVP):c.347G>A (p.Cys116Tyr)
Acc ID: HP:0000863
Term: Central diabetes insipidus
Definition: A form of diabetes insipidus related to a failure of vasopressin (AVP) release from the hypothalamus.
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)
CV1691649 IAGP 8554872ClinVarClinVar Annotator: match by term: Neurohypophyseal diabetes insipidus

PMID:10085151 PMID:11017955 PMID:11443218 PMID:14673472 PMID:25741868
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