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VARIANT - TERM ANNOTATION REPORT

RGD ID: 8605179
Species: Homo sapiens
RGD Object: Variant
Symbol: CV51504
Name: NM_000138.5(FBN1):c.3422C>T (p.Pro1141Leu)
Acc ID: DOID:83
Term: cataract
Definition: A lens disease characterized by clouding of the lens inside the eye which leads to a decrease in vision. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Cataract "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/10414631 "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)
CV51504 IAGP 8554872ClinVarClinVar Annotator: match by term: Congenital cataractPMID:10533071 PMID:24033266 PMID:24740214 PMID:25203624 PMID:25741868 PMID:28492532
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