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VARIANT - TERM ANNOTATION REPORT

RGD ID: 8629302
Species: Homo sapiens
RGD Object: Variant
Symbol: CV84447
Name: NM_206933.4(USH2A):c.9433C>T (p.Leu3145Phe)
Acc ID: HP:0000556
Term: Retinal dystrophy
Definition: Retinal dystrophy is an abnormality of the retina associated with a hereditary process. Retinal dystrophies are defined by their predominantly monogenic inheritance and they are frequently associated with loss or dysfunction of photoreceptor cells as a primary or secondary event.
Definition Source(s): https://orcid.org/0000-0003-0986-4123
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)
CV84447 IAGP 8554872ClinVarClinVar Annotator: match by term: Retinal dystrophy

PMID:25741868 PMID:26667666 PMID:26806561 PMID:26927203 PMID:28492532 PMID:32531858 PMID:34906470
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