Genetics Research
rs199473392
Aspartic Acid 2130 → Asparagine
Gene: CACNA1C — Calcium Voltage-Gated Channel Subunit Alpha1 C
Chr 12:2691170
12p13.33
2KB Upstream Variant
Population Frequencies6
African
G 0.99997A 0.00003GG 0.999932GA/AG 0.000068AA 0pop=29,474
African American
G 0.99996A 0.00004GG 0.999929GA/AG 0.000071AA 0pop=28,302
European
G 0.999917A 0.000083GG 0.999835GA/AG 0.000165AA 0pop=193,664
Latin American 1
G 0.9996A 0.0004GG 0.99925GA/AG 0.00075AA 0pop=2,666
Other
G 0.9996A 0.0004GG 0.999141GA/AG 0.000859AA 0pop=9,310
Studies3
Unread Studies3 ▼
1
Brugada syndrome (BrS) is an inherited arrhythmogenic disease associated with sudden cardiac death. The main gene is SCN5A. Additional variants in 42 other genes have been …
2
Short QT syndrome, one of the most lethal entities associated with sudden cardiac death, is a rare genetic disease characterized by short QT intervals detected by electrocardiogram. …
3
The aim of this chapter is to summarize current knowledge of management of right heart failure. We have come a long way from just considering right heart as a‗ passive conduit ‘to now …
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.