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VARIANT - TERM ANNOTATION REPORT

RGD ID: 11545602
Species: Homo sapiens
RGD Object: Variant
Symbol: CV253923
Name: NM_006204.4(PDE6C):c.2501A>G (p.Glu834Gly)
Acc ID: HP:0011516
Term: Achromatopsia
Definition: A condition where the retina contains no functional cone cells, so that in addition to the absence of color discrimination, vision in lights of normal intensity is difficult.
Definition Source(s): https://orcid.org/0000-0001-8727-6592, PMID:12015282
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)
CV253923 IAGP 8554872ClinVarClinVar Annotator: match by term: Rod monochromacy

PMID:10393054 PMID:25741868 PMID:28492532
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