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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: HP:0007754
Term: Macular dystrophy
Definition: Macular dystrophy is a nonspecific term for premature retinal cell aging and cell death, generally confied to the macula in which no clear extrinsic cause is evident.
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)
CV28206 IAGP 8554872ClinVarClinVar Annotator: match by term: Macular dystrophy

PMID: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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