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VARIANT - TERM ANNOTATION REPORT

RGD ID: 8557835
Species: Homo sapiens
RGD Object: Variant
Symbol: CV19031
Name: NM_017739.4(POMGNT1):c.1324C>T (p.Arg442Cys)
Acc ID: DOID:0111236
Term: congenital muscular dystrophy-dystroglycanopathy type A3
Definition: A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMGNT1 on 1p34.1. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/11709191 "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)
CV19031 IAGP 8554872ClinVarClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMGNT1-RELATEDPMID:15236414 PMID:16427280 PMID:17906881 PMID:21361872 PMID:25390965 PMID:25741868 PMID:26467025 PMID:28492532
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