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: rs79891110
rs79891110
Entrez Id: 775
Gene Symbol: CACNA1C
CACNA1C
CUI: C0023976
Disease:
Long QT Syndrome 		0.710 GeneticVariation BEFREE Two probands were identified with mutations in CACNA1C, one with a TS-associated mutation, G406R, and a second with genotype-negative LQTS. 27390944 2016
dbSNP: rs79891110
rs79891110
Entrez Id: 775
Gene Symbol: CACNA1C
CACNA1C
CUI: C0023976
Disease:
Long QT Syndrome 		A 0.710 CausalMutation CLINVAR Arrhythmogenesis in Timothy Syndrome is associated with defects in Ca(2+)-dependent inactivation. 26822303 2016
dbSNP: rs79891110
rs79891110
Entrez Id: 775
Gene Symbol: CACNA1C
CACNA1C
CUI: C0023976
Disease:
Long QT Syndrome 		A 0.710 CausalMutation CLINVAR Long QT syndrome with craniofacial, digital, and neurologic features: Is it useful to distinguish between Timothy syndrome types 1 and 2? 26227324 2015
dbSNP: rs79891110
rs79891110
Entrez Id: 775
Gene Symbol: CACNA1C
CACNA1C
CUI: C0023976
Disease:
Long QT Syndrome 		A 0.710 CausalMutation CLINVAR Imaging diagnosis-ultrasonographic and CT findings in a gray seal (Halichoerus grypus) with hepatic cirrhosis, pyelonephritis, and nephrolithiasis. 23578275 2014
dbSNP: rs79891110
rs79891110
Entrez Id: 775
Gene Symbol: CACNA1C
CACNA1C
CUI: C0023976
Disease:
Long QT Syndrome 		A 0.710 CausalMutation CLINVAR Maternal mosaicism confounds the neonatal diagnosis of type 1 Timothy syndrome. 23690510 2013
dbSNP: rs79891110
rs79891110
Entrez Id: 775
Gene Symbol: CACNA1C
CACNA1C
CUI: C0023976
Disease:
Long QT Syndrome 		A 0.710 CausalMutation CLINVAR Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory. 23631430 2013
dbSNP: rs79891110
rs79891110
Entrez Id: 775
Gene Symbol: CACNA1C
CACNA1C
CUI: C0023976
Disease:
Long QT Syndrome 		A 0.710 CausalMutation CLINVAR Timothy syndrome (TS) is a rare long-QT syndrome caused by CACNA1C mutations G406R in exon 8A (TS1) and G402S/G406R in exon 8 (TS2). 23580742 2013
dbSNP: rs79891110
rs79891110
Entrez Id: 775
Gene Symbol: CACNA1C
CACNA1C
CUI: C0023976
Disease:
Long QT Syndrome 		A 0.710 CausalMutation CLINVAR Somatic mosaicism contributes to phenotypic variation in Timothy syndrome. 21910241 2011
dbSNP: rs79891110
rs79891110
Entrez Id: 775
Gene Symbol: CACNA1C
CACNA1C
CUI: C0023976
Disease:
Long QT Syndrome 		A 0.710 CausalMutation CLINVAR The Timothy syndrome mutation of cardiac CaV1.2 (L-type) channels: multiple altered gating mechanisms and pharmacological restoration of inactivation. 19074970 2009
dbSNP: rs79891110
rs79891110
Entrez Id: 775
Gene Symbol: CACNA1C
CACNA1C
CUI: C0023976
Disease:
Long QT Syndrome 		A 0.710 CausalMutation CLINVAR The Timothy syndrome mutation differentially affects voltage- and calcium-dependent inactivation of CaV1.2 L-type calcium channels. 18250309 2008
dbSNP: rs79891110
rs79891110
Entrez Id: 775
Gene Symbol: CACNA1C
CACNA1C
CUI: C0023976
Disease:
Long QT Syndrome 		A 0.710 CausalMutation CLINVAR Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations. 15863612 2005
dbSNP: rs79891110
rs79891110
Entrez Id: 775
Gene Symbol: CACNA1C
CACNA1C
CUI: C0023976
Disease:
Long QT Syndrome 		A 0.710 CausalMutation CLINVAR Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism. 15454078 2004