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VARIANT - TERM ANNOTATION REPORT

RGD ID: 8557283
Species: Homo sapiens
RGD Object: Variant
Symbol: CV18260
Name: NM_013382.7(POMT2):c.1997A>G (p.Tyr666Cys)
Acc ID: DOID:0111240
Term: congenital muscular dystrophy-dystroglycanopathy type A2
Definition: A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMT2 on 14q24.3. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/15894594 "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)
CV18260 IAGP 8554872ClinVarClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2PMID:17634419 PMID:17878207 PMID:17878297 PMID:19138766 PMID:19299310 PMID:24002165 PMID:25741868 PMID:27854218 PMID:28492532
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