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VARIANT - TERM ANNOTATION REPORT

RGD ID: 21404994
Species: Homo sapiens
RGD Object: Variant
Symbol: CV800684
Name: NM_201253.3(CRB1):c.4005+1G>A
Acc ID: DOID:0110079
Term: Leber congenital amaurosis 8
Definition: A Leber congenital amaurosis that is characterized by night blindness and thick unlaminated retinas and has_material_basis_in mutation in the CRB1 gene on chromosome 1q31-q32. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/11231775 "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)
CV800684 IAGP 8554872ClinVarClinVar Annotator: match by term: Leber congenital amaurosis 8PMID:15024725 PMID:17576681 PMID:20683928 PMID:23379534 PMID:25741868 PMID:28492532 PMID:31456290 PMID:9536098
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