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VARIANT - TERM ANNOTATION REPORT

RGD ID: 13493061
Species: Homo sapiens
RGD Object: Variant
Symbol: CV449515
Name: NM_001267550.2(TTN):c.69638G>A (p.Arg23213His)
Acc ID: DOID:0110283
Term: autosomal recessive limb-girdle muscular dystrophy type 2J
Definition: An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the titin gene (TTN). (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/12145747 "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)
CV449515 IAGP 8554872ClinVarClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10PMID:25741868 PMID:28492532
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