Disease: Long QT Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs786205748
rs786205748
Entrez Id: 775
Gene Symbol: CACNA1C
CACNA1C
CUI: C0023976
Disease:
Long QT Syndrome 		0.710 GeneticVariation BEFREE Using patient-specific hiPSC-CM mutant and isogenic control lines, we demonstrate that the CACNA1C-p.R518C variant is the self-sufficient, monogenetic substrate for the patient's long-QT syndrome phenotype. 31430211 2019
dbSNP: rs786205748
rs786205748
Entrez Id: 775
Gene Symbol: CACNA1C
CACNA1C
CUI: C0023976
Disease:
Long QT Syndrome 		T 0.710 CausalMutation CLINVAR Through whole exome sequencing and expanded cohort screening, we identified a novel genetic substrate p.Arg518Cys/His-CACNA1C, in patients with a complex phenotype including LQTS, HCM, and congenital heart defects annotated as cardiac-only Timothy syndrome. 26253506 2015