Genetics Genetics Research
CHROMOSOME 12 CACNA1C 12p13.33 GENE VIEW CACNA1C · 12p13.33 12p14 12p12 rs773528195 — ~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 rs773528195 Aspartic Acid 57 → Asparagine 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

rs773528195

Aspartic Acid 57 → Asparagine Gene: CACNA1C — Calcium Voltage-Gated Channel Subunit Alpha1 C Chr 12:2115343 12p13.33 Missense Variant
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ ClinVar ↗ Varsome ↗ LOVD ↗

Population Frequencies5

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Total G 0.999499A 0.000501GG 0.998998GA/AG 0.001002AA 0pop=175,714 ↬
African G 0.9997A 0.0003GG 0.999304GA/AG 0.000696AA 0pop=8,622
African American G 0.9996A 0.0004GG 0.999279GA/AG 0.000721AA 0pop=8,320
European G 0.999471A 0.000529GG 0.998941GA/AG 0.001059AA 0pop=154,892
Latin American 2 G 0.999A 0.001GG 0.998068GA/AG 0.001932AA 0pop=3,106

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