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VARIANT - TERM ANNOTATION REPORT

RGD ID: 21405077
Species: Homo sapiens
RGD Object: Variant
Symbol: CV800649
Name: NM_000266.4(NDP):c.269G>A (p.Arg90His)
Acc ID: HP:6000262
Term: Pseudoglioma
Definition: A circumscribed whitish-yellow mass in the posterior chamber associated with retinal folds and sometimes retinal detachment and is said to resemble a retinal glioma.
Definition Source(s): PMID:16252235
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)
CV800649 IAGP 8554872ClinVarClinVar Annotator: match by term: Pseudoglioma

PMID:14635119 PMID:25741868 PMID:28492532 PMID:30311386 PMID:31456290
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