Genetics Research
rs79891110
Glycine 406 → Arginine
Gene: CACNA1C — Calcium Voltage-Gated Channel Subunit Alpha1 C
Chr 12:2504944
12p13.33
Stop Gained
Population Frequencies2
South Asian
G 0.9998A 0.0002pop=4,780
Studies9
Unread Studies9 ▼
1
The CACNA1C gene is a voltage-gated calcium channel involved in regulating calcium entry into the cells. The gene is associated with various types of diseases like cancer…
2
We identified a CACNA1C gene exon 8A p. Gly406Arg mutation, specific to Timothy syndrome type 1, in a patient with a variant phenotype of Timothy syndrome characterized by lack of …
3
We present a case of successful implantation of a cardioverter-defibrillator (ICD) using combined technique in a child with Timothy's syndrome. Due to high risk of sudden cardiac death (…
4
The goal of this issue is to illustrate a more comprehensive method of interpreting complex arrhythmias. The Andrea Pozzolini and colleagues’ article,“Complex Arrhythmias Due to …
5
The goal of this issue is to illustrate a more comprehensive method of interpreting complex arrhythmias. The Andrea Pozzolini and col-leagues' article," Complex Arrhythmias Due to …
6
Personalized medicine (PM), included in P5 medicine (Personalized, Predictive, Preventive, Participative and Precision medicine) is an innovative approach to the patient, emerging …
7
Timothy syndrome 1 (TS1) is a rare genetic disorder characterized by multisystem abnormalities including QT prolongation, congenital heart defects, facial dysmorphism, episodic …
8
Electrocardiographic traits are important, substantially heritable determinants of risk of arrhythmias and sudden cardiac death. Methods and Results—In this study, 3 …
9
… A striking example is marker rs79891110 in CACNA1C, in which a guanidine to adenine exchange causes a missense mutation that leads to a faulty channel protein [78]. This impairs …
Curated Studies0 ▼
These studies were determined to be useful for this variant — check "Unused Studies" further down if curious what didn't make the cut.
No curated studies yet.
Unused Studies0 ▼
No unused studies.