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VARIANT - TERM ANNOTATION REPORT

RGD ID: 28908473
Species: Homo sapiens
RGD Object: Variant
Symbol: CV867941
Name: NM_207122.2(EXT2):c.605C>T (p.Ala202Val)
Acc ID: DOID:9003693
Term: Multiple Exostoses Type II
Definition: Hereditary multiple exostoses is an autosomal dominant disorder characterized by multiple exostoses most commonly arising from the juxtaepiphyseal region of the long bones. Multiple hereditary exostoses type II (EXT2) is caused by heterozygous mutation in the gene encoding exostosin-2 (EXT2) on chromosome 11p11. (OMIM)
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)
CV867941 IAGP 8554872ClinVarClinVar Annotator: match by term: Exostoses, multiple, type 2PMID:11170095 PMID:26961984 PMID:28492532
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