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VARIANT - TERM ANNOTATION REPORT

RGD ID: 9687231
Species: Homo sapiens
RGD Object: Variant
Symbol: CV171177
Name: NM_000138.5(FBN1):c.7241G>A (p.Arg2414Gln)
Acc ID: DOID:0111150
Term: autosomal dominant isolated ectopia lentis 1
Definition: An isolated ectopia lentis that has_material_basis_in heterozygous mutation in the FBN1 gene on chromosome 15q21. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/15054843 "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)
CV171177 IAGP 8554872ClinVarClinVar Annotator: match by term: Ectopia lentis, isolated, autosomal dominantPMID:16835936 PMID:24941995 PMID:25637381 PMID:25741868 PMID:25812041 PMID:28492532
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