Genetics Genetics Research
CHROMOSOME 12 CACNA1C 12p13.33 GENE VIEW CACNA1C · 12p13.33 12p14 12p12 rs193922616 — ~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 rs193922616 Alanine 2103 → Threonine 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

rs193922616

Alanine 2103 → Threonine Gene: CACNA1C — Calcium Voltage-Gated Channel Subunit Alpha1 C Chr 12:2691089 12p13.33 Non Coding Transcript Variant
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ ClinVar ↗ Varsome ↗ LOVD ↗

Population Frequencies3

Sort by
Total G 0.999977T 0.000023GG 0.999955GT/TG 0.000045TT 0pop=220,658 ↬
European G 0.999978T 0.000022GG 0.999957GT/TG 0.000043TT 0pop=184,268
Latin American 2 G 0.9998T 0.0002GG 0.999649GT/TG 0.000351TT 0pop=5,692

Studies0

Unread Studies0 ▼

No new studies.

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.