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VARIANT - TERM ANNOTATION REPORT

RGD ID: 12834778
Species: Homo sapiens
RGD Object: Variant
Symbol: CV377390
Name: NM_001127222.2(CACNA1A):c.6125C>T (p.Thr2042Met)
Acc ID: DOID:9005532
Term: Muscle Weakness
Definition: A vague complaint of debility, fatigue, or exhaustion attributable to weakness of various muscles. The weakness can be characterized as subacute or chronic, often progressive, and is a manifestation of many muscle and neuromuscular diseases. (From Wyngaarden et al., Cecil Textbook of Medicine, 19th ed, p2251)
Definition Source(s): MESH:D018908
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)
CV377390 IAGP 8554872ClinVarClinVar Annotator: match by term: Muscle weaknessPMID:25741868 PMID:26467025 PMID:28492532
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