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VARIANT - TERM ANNOTATION REPORT

RGD ID: 38485196
Species: Homo sapiens
RGD Object: Variant
Symbol: CV928665
Name: NM_015295.3(SMCHD1):c.311A>G (p.Asn104Ser)
Acc ID: DOID:0111193
Term: facioscapulohumeral muscular dystrophy 2
Definition: A facioscapulohumeral muscular dystrophy that has_material_basis_in digenic inheritance of a heterozygous mutation in the SMCHDI gene on 18p11.32 and a haplotype on chromosome 4 that is permissive for DUX4 expression. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/20975055 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/23143600 "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)
CV928665 IAGP 8554872ClinVarClinVar Annotator: match by term: Facioscapulohumeral muscular dystrophy 2PMID:25741868 PMID:28492532 PMID:29980640
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