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RGD ID: 8557835
Species: Homo sapiens
RGD Object: Variant
Symbol: CV19031
Name: NM_017739.3(POMGNT1):c.1324C>T (p.Arg442Cys)
Acc ID: DOID:9008630
Term: Muscular Dystrophy-Dystroglycanopathy (congenital with mental retardation), Type B, 3
Definition: null
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)
CV19031 IAGP 8554872ClinVarClinVar Annotator: match by term: MUSCULAR DYSTROPHY CONGENITAL POMGNT1-RELATED

PMID:15236414 PMID:16427280 PMID:17906881 PMID:21361872 PMID:25390965 PMID:25741868 PMID:26467025 PMID:28492532
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