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VARIANT - TERM ANNOTATION REPORT

RGD ID: 156441866
Species: Homo sapiens
RGD Object: Variant
Symbol: CV1941520
Name: NM_000127.3(EXT1):c.1091G>A (p.Trp364Ter)
Acc ID: HP:0002762
Term: Multiple exostoses
Definition: Presence of more than one exostosis. An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage, and arises from a bone that develops from cartilage.
Definition Source(s): https://orcid.org/0000-0002-0736-9199
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)
CV1941520 IAGP 8554872ClinVarClinVar Annotator: match by term: Multiple exostoses

PMID:10679937 PMID:11391482 PMID:19810120 PMID:25741868 PMID:28492532 PMID:30806661
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