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VARIANT - TERM ANNOTATION REPORT

RGD ID: 34898147
Species: Homo sapiens
RGD Object: Variant
Symbol: CV912899
Name: NM_000138.5(FBN1):c.3026C>T (p.Pro1009Leu)
Acc ID: DOID:14323
Term: Marfan syndrome
Definition: A connective tissue disease that is characterized by tall stature, elongated extremities, mitral valve prolapse, aortic dilatation, aortic dissection, and subluxation of the lens. (DO)
Definition Source(s): https://ghr.nlm.nih.gov/condition/marfan-syndrome#inheritance "DO" "DO", https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.12d&ns=NCI_Thesaurus&code=C34807 "DO" "DO", https://rarediseases.org/rare-diseases/marfan-syndrome/ "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)
CV912899 IAGP 8554872ClinVarClinVar Annotator: match by term: Marfan syndromePMID:25741868 PMID:28492532 PMID:30471092
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