CHROMOSOME 12 CACNA1C 12p13.33 GENE VIEW CACNA1C · 12p13.33 12p14 12p12 rs786205753 — ~70,000 base pairs in the gene — ~14,000 uncommon variants · <1% of humans have them — ~1,000 common variants · >1% carry the alternate allele ALLELE STATE rs786205753 Arginine 858 → Histidine G / A · CACNA1C · 12p13.33 HOMOZYGOUS WILD TYPE (DOMINANT) 5′ 3′ G 5′ 3′ G HETEROZYGOUS 5′ 3′ G 5′ 3′ A HOMOZYGOUS ALTERNATE (RECESSIVE) 5′ 3′ A 5′ 3′ A G Guanine — reference allele A Adenine — variant allele genetics.jdge.cc

rs786205753

Arginine 858 → Histidine Gene: CACNA1C — Calcium Voltage-Gated Channel Subunit Alpha1 C Chr 12:2593255 12p13.33 Missense Variant
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ ClinVar ↗ Varsome ↗ LOVD ↗

Population Frequencies1

Global G 0.999992A 0.000008pop=264,690

Studies4

Unread Studies4
1
The aim of this study was to increase knowledge of genes associated with anorexia nervosa (AN) and their diagnostic offer, using a next generation sequencing (NGS) panel …
2
Las arritmias hereditarias (AHs) o canalopatías arritmogénicas son enfermedades que con frecuencia producen sintomatología grave desde la infancia. En su conjunto, estas …
3
Цель. Изучить Спектр Мутаций В Генах, Ответственных За Синдром Удлиненного Интервала Qt (Lqts), А Также Проанализировать Их Фенотипические Проявления У Пациентов …
4
Isolated cardiac arrhythmia due to a variant in CACNA1C is of recent knowledge. Most reports have been of singleton cases or of quite small families, and estimates of …
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.