Genetics Research
rs199473660
Valine 2014 → Isoleucine
Gene: CACNA1C — Calcium Voltage-Gated Channel Subunit Alpha1 C
Chr 12:2688702
12p13.33
Intron Variant
Population Frequencies4
African
G 0.9997A 0.0003GG 0.99946GA/AG 0.00054AA 0pop=3,704
African American
G 0.9997A 0.0003GG 0.999441GA/AG 0.000559AA 0pop=3,580
European
G 0.99952A 0.00048GG 0.99904GA/AG 0.00096AA 0pop=39,584
Studies3
Unread Studies3 ▼
1
В одной трети случаев причина внезапной смерти остается необъясненной после проведения стандартного судебно-медицинского исследования. При отрицательной …
2
Familial atrial fibrillation (FAF), a not uncommon arrhythmia of the atrium, is characterized by heritability, early onset and absence of other heart defects. The molecular and …
3
Supplemental Fig. S1 Fluorescence microscopic imaging of Cav1. 2 wild-type channel and non-syndromic Cav1. 2 mutants in HEK293 cells. The upper part of the figure illustrates the …
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.