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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: DOID:13911
Term: achromatopsia
Definition: A color blindness that is characterized by a congenital cone color vision disorder, the inability to perceive color and to achieve satisfactory visual acuity at high light levels has_material_basis_in autosomal recessive inheritance. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Achromatopsia "DO" "DO", http://www.ncbi.nlm.nih.gov/books/NBK1418/ "DO" "DO", http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=49382 "DO" "DO", http://www.sciencedirect.com/science/article/pii/S0161642009010008 "DO" "DO"
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: AchromatopsiaPMID:10393054 PMID:25741868 PMID:28492532
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