|
rs16847548
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The patient is also homozygous for the two minor variants rs4657139 and rs16847548 on the NOS1AP gene, associated with greater risk for cardiac arrest and sudden death in LQTS mutation carriers of the founder population. hiPSCs, obtained using four retroviruses encoding the reprogramming factors OCT4, SOX2, cMYC and KLF4, display pluripotent stem cell characteristics, and can be differentiated into spontaneously beating cardiomyocytes (hiPSC-CMs).
|
30878014 |
2019 |
|
rs4657139
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The patient is also homozygous for the two minor variants rs4657139 and rs16847548 on the NOS1AP gene, associated with greater risk for cardiac arrest and sudden death in LQTS mutation carriers of the founder population. hiPSCs, obtained using four retroviruses encoding the reprogramming factors OCT4, SOX2, cMYC and KLF4, display pluripotent stem cell characteristics, and can be differentiated into spontaneously beating cardiomyocytes (hiPSC-CMs).
|
30878014 |
2019 |
|
rs146695489
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Octreotide-induced long QT syndrome in a child with congenital hyperinsulinemia and a novel missense mutation (p.Met115Val) in the ABCC8 gene.
|
24080777 |
2013 |
|
rs1563145763
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs796052199
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs796052200
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs755287627
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs796052197
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs796052198
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs1408198357
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Identification of a new SCN5A mutation, D1840G, associated with the long QT syndrome. Mutations in brief no. 153. Online.
|
10627139 |
1998 |
|
rs1047624774
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A Caucasian family with syncope and marginally prolonged QT interval was screened for LQTS-susceptibility genes and found to harbor the R800L mutation in SCN5A and A261V mutation in SNTA1, and those with both mutations had the strongest clinical phenotype.
|
23376825 |
2013 |
|
rs750835733
|
|
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 |
|
rs750835733
|
|
|
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 |
|
rs786205748
|
|
|
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 |
|
rs786205748
|
|
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 |
|
rs79891110
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Maternal mosaicism confounds the neonatal diagnosis of type 1 Timothy syndrome.
|
23690510 |
2013 |
|
rs79891110
|
|
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
|
|
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
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism.
|
15454078 |
2004 |
|
rs79891110
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations.
|
15863612 |
2005 |
|
rs79891110
|
|
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
|
|
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
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Somatic mosaicism contributes to phenotypic variation in Timothy syndrome.
|
21910241 |
2011 |
|
rs79891110
|
|
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 |
|
rs79891110
|
|
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 |