Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

VARIANT - TERM ANNOTATION REPORT

RGD ID: 13704742
Species: Homo sapiens
RGD Object: Variant
Symbol: CV538948
Name: NM_017739.3(POMGNT1):c.355-3T>G
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)
CV538948 IAGP 8554872ClinVarClinVar Annotator: match by term: MUSCULAR DYSTROPHY CONGENITAL POMGNT1-RELATED

PMID:25741868
Go Back to source page   Continue to Ontology report