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VARIANT - TERM ANNOTATION REPORT

RGD ID: 8629302
Species: Homo sapiens
RGD Object: Variant
Symbol: CV84447
Name: NM_206933.4(USH2A):c.9433C>T (p.Leu3145Phe)
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)
CV84447 IAGP 8554872ClinVarClinVar Annotator: match by term: Retinal dystrophyPMID:25741868 PMID:26667666 PMID:26806561 PMID:26927203 PMID:28492532 PMID:32531858 PMID:34906470
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