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VARIANT - TERM ANNOTATION REPORT

RGD ID: 12901574
Species: Homo sapiens
RGD Object: Variant
Symbol: CV410395
Name: NM_005359.6(SMAD4):c.1651T>G (p.Leu551Val)
Acc ID: DOID:0111543
Term: juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome
Definition: A syndrome characterized by hamartomatous polyps in the gastrointestinal tract, telangiectases of the skin, and oral and nasal mucosa, epistaxis, and arteriovenous malformations of the lungs, liver, brain, and gastrointestinal tract that has_material_basis_in heterozygous mutation in the SMAD4 gene on chromosome 18q21.2. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/15031030 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/20101697 "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)
CV410395 IAGP 8554872ClinVarClinVar Annotator: match by term: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, WITH JUVENILE POLYPOSIS COLIPMID:25741868 PMID:28492532
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