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VARIANT - TERM ANNOTATION REPORT

RGD ID: 13503451
Species: Homo sapiens
RGD Object: Variant
Symbol: CV465015
Name: NM_000070.3(CAPN3):c.2120A>G (p.Asp707Gly)
Acc ID: DOID:9006843
Term: Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 4
Definition: A disease characterized by onset of proximal muscle weakness in young adulthood.
Definition Source(s): OMIM:618129
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)
CV465015 IAGP 8554872ClinVarClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1IPMID:10567047 PMID:11525884 PMID:25079074 PMID:25252031 PMID:25741868 PMID:26632398 PMID:27066573 PMID:27363342 PMID:28492532 PMID:30919934
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