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VARIANT - TERM ANNOTATION REPORT

RGD ID: 8563540
Species: Homo sapiens
RGD Object: Variant
Symbol: CV28206
Name: NM_000322.5(PRPH2):c.515G>A (p.Arg172Gln)
Acc ID: DOID:8501
Term: fundus dystrophy
Definition: A group of disorders involving predominantly the posterior portion of the ocular fundus, due to degeneration in the sensory layer of the RETINA; RETINAL PIGMENT EPITHELIUM; BRUCH MEMBRANE; CHOROID; or a combination of these tissues.
Definition Source(s): MESH:D058499
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)
CV28206 IAGP 8554872ClinVarClinVar Annotator: match by term: Retinal dystrophyPMID:10532447 PMID:19038374 PMID:19243827 PMID:22003107 PMID:25082885 PMID:25741868 PMID:28492532 PMID:28559085 PMID:29555955 PMID:30718709 PMID:32531846 PMID:8302543 PMID:8485576 PMID:9443872
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