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VARIANT - TERM ANNOTATION REPORT

RGD ID: 8596951
Species: Homo sapiens
RGD Object: Variant
Symbol: CV20949
Name: NM_000334.4(SCN4A):c.1333G>A (p.Val445Met)
Acc ID: DOID:0111538
Term: paramyotonia congenita of Von Eulenburg
Definition: A neuromuscular disease characterized by onset in infancy or early childhood of bouts of myotonia and muscle weakness that are increased by cold exposure that has_material_basis_in heterozygous mutation in the SCN4A gene on chromosome 17q23.3. (DO)
Definition Source(s): https://ghr.nlm.nih.gov/condition/paramyotonia-congenita "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/1316765 "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)
CV20949 IAGP 8554872ClinVarClinVar Annotator: match by term: Von Eulenburg paramyotonia congenitaPMID:10218481 PMID:11744749 PMID:17334961 PMID:18337100 PMID:19840739 PMID:22653516 PMID:25724373 PMID:25741868 PMID:25839108 PMID:26467025 PMID:27415035 PMID:28325641 PMID:28492532 PMID:32026975 PMID:32276507 PMID:9392583
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