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VARIANT - TERM ANNOTATION REPORT

RGD ID: 13434934
Species: Homo sapiens
RGD Object: Variant
Symbol: CV431670
Name: NM_006017.3(PROM1):c.730C>T (p.Arg244Ter)
Acc ID: HP:0000556
Term: Retinal dystrophy
Definition: Retinal dystrophy is an abnormality of the retina associated with a hereditary process. Retinal dystrophies are defined by their predominantly monogenic inheritance and they are frequently associated with loss or dysfunction of photoreceptor cells as a primary or secondary event.
Definition Source(s): https://orcid.org/0000-0003-0986-4123
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)
CV431670 IAGP 8554872ClinVarClinVar Annotator: match by term: Retinal dystrophy

PMID:17605048 PMID:19718270 PMID:24154662 PMID:24763286 PMID:25474345 PMID:25741868 PMID:26702251 PMID:28041643 PMID:28492532 PMID:32581362
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