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VARIANT - TERM ANNOTATION REPORT

RGD ID: 8617332
Species: Homo sapiens
RGD Object: Variant
Symbol: CV71243
Name: NM_017739.4(POMGNT1):c.643C>T (p.Arg215Ter)
Acc ID: DOID:0110292
Term: autosomal recessive limb-girdle muscular dystrophy type 2O
Definition: An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the gene encoding protein O-mannose beta-1,2-N-acetylglucosaminyltransferase (POMGNT1) on chromosome 1p34. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/18195152 "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)
CV71243 IAGP 8554872ClinVarClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C3PMID:19299310 PMID:20816175 PMID:21447391 PMID:22554691 PMID:25741868 PMID:26908613 PMID:26938784 PMID:27391550 PMID:28492532 PMID:28832562
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