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VARIANT - TERM ANNOTATION REPORT

RGD ID: 402519082
Species: Homo sapiens
RGD Object: Variant
Symbol: CV3086184
Name: NM_201253.3(CRB1):c.2371G>C (p.Gly791Arg)
Acc ID: DOID:0110358
Term: retinitis pigmentosa 12
Definition: A retinitis pigmentosa that has_material_basis_in mutation in the CRB1 gene on chromosome 1q31.3. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/10508521 "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)
CV3086184 IAGP 8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa 12PMID:26047050 PMID:28492532 PMID:33090715 PMID:33342761
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