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VARIANT - TERM ANNOTATION REPORT

RGD ID: 8602112
Species: Homo sapiens
RGD Object: Variant
Symbol: CV39001
Name: NM_000335.5(SCN5A):c.1333C>G (p.His445Asp)
Acc ID: DOID:0111074
Term: progressive familial heart block type IA
Definition: A progressive familial heart block characterized by autosomal dominant inheritance of cardiac bundle branch disorder that may progress to complete heart block that has_material_basis_in mutation in the SCN5A gene on chromosome 3p21. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/10471492 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/897853 "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)
CV39001 IAGP 8554872ClinVarClinVar Annotator: match by term: PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IAPMID:18378609 PMID:19808477 PMID:22581653 PMID:25650408 PMID:25741868 PMID:28086167 PMID:28150151 PMID:28492532 PMID:29709244 PMID:30086531 PMID:30193851 PMID:32826072 PMID:32893267
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