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VARIANT - TERM ANNOTATION REPORT

RGD ID: 11615393
Species: Homo sapiens
RGD Object: Variant
Symbol: CV334658
Name: NM_025114.4(CEP290):c.503G>A (p.Arg168His)
Acc ID: HP:0000510
Term: Rod-cone dystrophy
Definition: An inherited retinal disease subtype in which the rod photoreceptors appear to be more severely affected than the cone photoreceptors. Typical presentation is with nyctalopia (due to rod dysfunction) followed by loss of mid-peripheral field of vision, which gradually extends and leaves many patients with a small central island of vision due to the preservation of macular cones.
Definition Source(s): https://orcid.org/0000-0002-0736-9199, PMID:20212494
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)
CV334658 IAGP 8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa

PMID:25741868 PMID:28492532 PMID:30718709 PMID:33924653
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