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VARIANT - TERM ANNOTATION REPORT

RGD ID: 10410868
Species: Homo sapiens
RGD Object: Variant
Symbol: CV209628
Name: NM_003242.6(TGFBR2):c.1489C>T (p.Arg497Ter)
Acc ID: DOID:0070234
Term: Loeys-Dietz syndrome 2
Definition: A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFBR2 gene on chromosome 3p24. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/15235604 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/15731757 "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)
CV209628 IAGP 8554872ClinVarClinVar Annotator: match by term: Loeys-Dietz syndrome 2PMID:15235604 PMID:16799921 PMID:18781618 PMID:19996017 PMID:24033266 PMID:25741868 PMID:27100340 PMID:27879313 PMID:28225382 PMID:28492532 PMID:29543232
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