CHROMOSOME 12 CACNA1C 12p13.33 GENE VIEW CACNA1C · 12p13.33 12p14 12p12 rs587782933 — ~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 rs587782933 Glycine 402 → Serine 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

rs587782933

Glycine 402 → Serine Gene: CACNA1C — Calcium Voltage-Gated Channel Subunit Alpha1 C Chr 12:2504526 12p13.33 Missense Variant
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ ClinVar ↗ Varsome ↗ LOVD ↗

Population Frequencies2

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Global G 0.999999A 0.000001pop=1,390,030
European G 0.999999A 0.000001pop=1,154,660

Studies2

Unread Studies2
1
Sudden unexplained death in childhood (SUDC) is an understudied problem. Whole-exome sequence data from 124 “trios” (decedent child, living parents) was used to test for …
2
Įva das. Il go QT in ter va lo sin dro mas–tai mio kar do re po lia ri za ci jos sutri ki mas, ku riam bū din gas pail gė jęs QT in ter va las elek tro kar diog ra moje. Šiuo me tu nu sta ty ta ne …
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.

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Unused Studies0

No unused studies.