CHROMOSOME 12 CACNA1C 12p13.33 GENE VIEW CACNA1C · 12p13.33 12p14 12p12 rs11062040 — ~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 rs11062040 C / T · CACNA1C · 12p13.33 HOMOZYGOUS WILD TYPE (DOMINANT) 5′ 3′ C 5′ 3′ C HETEROZYGOUS 5′ 3′ C 5′ 3′ T HOMOZYGOUS ALTERNATE (RECESSIVE) 5′ 3′ T 5′ 3′ T C Cytosine — reference allele T Thymine — variant allele genetics.jdge.cc

rs11062040

Gene: CACNA1C — Calcium Voltage-Gated Channel Subunit Alpha1 C Chr 12:1982091 12p13.33 Intron Variant
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ Varsome ↗ LOVD ↗

Population Frequencies12

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Total C 0.486893T 0.513107CC 0.239358CT/TC 0.49507TT 0.265572pop=728,180
African C 0.3454T 0.6546CC 0.120234CT/TC 0.45033TT 0.429436pop=62,794
African American C 0.34647T 0.65353CC 0.121224CT/TC 0.450501TT 0.428275pop=60,648
African Others C 0.315T 0.685CC 0.092265CT/TC 0.44548TT 0.462255pop=2,146
Asian C 0.46307T 0.53693CC 0.213141CT/TC 0.499857TT 0.287003pop=13,972
East Asian C 0.47027T 0.52973CC 0.218648CT/TC 0.503253TT 0.278099pop=11,068
European C 0.501181T 0.498819CC 0.251185CT/TC 0.499993TT 0.248822pop=590,904
Latin American 1 C 0.44411T 0.55589CC 0.198425CT/TC 0.491373TT 0.310203pop=10,664
Latin American 2 C 0.52458T 0.47542CC 0.275945CT/TC 0.497269TT 0.226786pop=19,040
Other C 0.47748T 0.52252CC 0.229193CT/TC 0.49657TT 0.274237pop=22,156
Other Asian C 0.4356T 0.5644CC 0.192149CT/TC 0.486915TT 0.320937pop=2,904
South Asian C 0.5704T 0.4296CC 0.334566CT/TC 0.471676TT 0.193757pop=8,650

Studies4

Unread Studies4
1
Phantom tooth pain (PTP) is a rare and specific neuropathic pain that occurs after pulpectomy and tooth extraction, but its cause is not understood. We hypothesized that there is a …
2
… The other two investigated candidate polymorphisms DCP1B rs11062040 and BTRC rs10883617 did not reveal any link to OS in our study cohorts ( Supplementary Figure 1 , available …
3
First and foremost, I want to thank my advisor PD. Dr. med. Markus Schirmer for his scientific support during my whole PhD time. I appreciate all his knowledge, scientific enthusiasm, …
4
Cancer and Leukemia Group B 80303 was a randomized, phase III study in patients with advanced pancreatic cancer treated with gemcitabine plus either …
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.