rs377564636
CACNA1C;CACNA1C-AS1
Long QT Syndrome
0.010
GeneticVariation
BEFREE
A known long QT syndrome -related mutation in Nav1.5 cardiac channels (p.R1644H ) was found in 4 members of a Spanish family but only 1 of them showed prolongation of the QT interval.
29691127
2019
rs587782933
×
Entrez Id:
775
Gene Symbol:
CACNA1C
CACNA1C
Long QT Syndrome
A
0.700
CausalMutation
CLINVAR
A rare mutation of CACNA1C in a patient with bipolar disorder, and decreased gene expression associated with a bipolar-associated common SNP of CACNA1C in brain.
23979604
2014
rs79891110
×
Entrez Id:
775
Gene Symbol:
CACNA1C
CACNA1C
Long QT Syndrome
A
0.710
CausalMutation
CLINVAR
Arrhythmogenesis in Timothy Syndrome is associated with defects in Ca(2+)-dependent inactivation.
26822303
2016
rs587782933
×
Entrez Id:
775
Gene Symbol:
CACNA1C
CACNA1C
Long QT Syndrome
A
0.700
CausalMutation
CLINVAR
Arrhythmogenesis in Timothy Syndrome is associated with defects in Ca(2+)-dependent inactivation.
26822303
2016
rs79891110
×
Entrez Id:
775
Gene Symbol:
CACNA1C
CACNA1C
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
rs587782933
×
Entrez Id:
775
Gene Symbol:
CACNA1C
CACNA1C
Long QT Syndrome
A
0.700
CausalMutation
CLINVAR
Exome sequencing helped the fine diagnosis of two siblings afflicted with atypical Timothy syndrome (TS2).
24773605
2014
rs587782933
×
Entrez Id:
775
Gene Symbol:
CACNA1C
CACNA1C
Long QT Syndrome
A
0.700
CausalMutation
CLINVAR
Expanding the phenotype of Timothy syndrome type 2: an adolescent with ventricular fibrillation but normal development.
25691416
2015
rs1343191564
CACNA1C;CACNA1C-AS1
Long QT Syndrome
0.010
GeneticVariation
BEFREE
Here, we functionally analyzed p.S1961N Cav1.2 channels to elucidate whether this mutation regulates the expressivity of the long QT syndrome phenotype in this family.
29691127
2019
rs749945590
CACNA1C;CACNA1C-AS1
Long QT Syndrome
0.010
GeneticVariation
BEFREE
Here, we functionally analyzed p.S1961N Cav1.2 channels to elucidate whether this mutation regulates the expressivity of the long QT syndrome phenotype in this family.
29691127
2019
rs79891110
×
Entrez Id:
775
Gene Symbol:
CACNA1C
CACNA1C
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
rs79891110
×
Entrez Id:
775
Gene Symbol:
CACNA1C
CACNA1C
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
rs79891110
×
Entrez Id:
775
Gene Symbol:
CACNA1C
CACNA1C
Long QT Syndrome
A
0.710
CausalMutation
CLINVAR
Maternal mosaicism confounds the neonatal diagnosis of type 1 Timothy syndrome.
23690510
2013
rs79891110
×
Entrez Id:
775
Gene Symbol:
CACNA1C
CACNA1C
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
rs79891110
×
Entrez Id:
775
Gene Symbol:
CACNA1C
CACNA1C
Long QT Syndrome
A
0.710
CausalMutation
CLINVAR
Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations.
15863612
2005
rs587782933
×
Entrez Id:
775
Gene Symbol:
CACNA1C
CACNA1C
Long QT Syndrome
A
0.700
CausalMutation
CLINVAR
Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations.
15863612
2005
rs79891110
×
Entrez Id:
775
Gene Symbol:
CACNA1C
CACNA1C
Long QT Syndrome
A
0.710
CausalMutation
CLINVAR
Somatic mosaicism contributes to phenotypic variation in Timothy syndrome.
21910241
2011
rs79891110
×
Entrez Id:
775
Gene Symbol:
CACNA1C
CACNA1C
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
rs79891110
×
Entrez Id:
775
Gene Symbol:
CACNA1C
CACNA1C
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
rs750835733
×
Entrez Id:
775
Gene Symbol:
CACNA1C
CACNA1C
Long QT Syndrome
0.710
GeneticVariation
BEFREE
This mutation, Pro857Arg -CACNA1C, cosegregated with the disease within the pedigree, was ranked by 3 disease-network algorithms as the most probable LQTS -susceptibility gene and involves a conserved residue localizing to the proline, gltamic acid, serine, and threonine (PEST) domain in the II-III linker.
23677916
2013
rs750835733
×
Entrez Id:
775
Gene Symbol:
CACNA1C
CACNA1C
Long QT Syndrome
T
0.710
GeneticVariation
CLINVAR
This mutation, Pro857Arg -CACNA1C, cosegregated with the disease within the pedigree, was ranked by 3 disease-network algorithms as the most probable LQTS -susceptibility gene and involves a conserved residue localizing to the proline, gltamic acid, serine, and threonine (PEST) domain in the II-III linker.
23677916
2013
rs786205748
×
Entrez Id:
775
Gene Symbol:
CACNA1C
CACNA1C
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
rs587782933
×
Entrez Id:
775
Gene Symbol:
CACNA1C
CACNA1C
Long QT Syndrome
A
0.700
CausalMutation
CLINVAR
Timothy mutation disrupts the link between activation and inactivation in Ca(V)1.2 protein.
21685391
2011
rs79891110
×
Entrez Id:
775
Gene Symbol:
CACNA1C
CACNA1C
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
rs79891110
×
Entrez Id:
775
Gene Symbol:
CACNA1C
CACNA1C
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
rs786205745
×
Entrez Id:
775
Gene Symbol:
CACNA1C
CACNA1C
Long QT Syndrome
0.010
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