rs1051375

This is a synonymous variant in the CACNA1C gene — it does not change the protein's amino acid sequence.

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GWAS Catalog Trait Associations (1)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

electrocardiography

Verweij N et al. “The Genetic Makeup of the Electrocardiogram.” Cell Systems 11(3):229-238.e5 (2020)

Allele G

OR 0.04

p 3.0e-11

N 63,706

Major Consortium StudyLarge GWAS

European, NR

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ClinVar annotation

Benign★★★☆

11 submitters2 publications

Cardiovascular phenotype; Long QT syndrome (LQTS); Timothy syndrome (TS); not specified

View on ClinVar →

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Research that mentions this SNP (1)

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Brain Function in Carriers of a Genome-wide Supported Bipolar Disorder Variant

FunctionalSusanne Erk et al.(2010)· Archives of General Psychiatry

A PhD dissertation investigating the cell type-specific effects of CACNA1C, a cross-disorder psychiatric risk gene encoding the α1 subunit of the L-type voltage-gated calcium channel Cav1.2. The dissertation reviews human genetic studies showing associations between multiple CACNA1C SNPs (including rs1006737, rs1024582, rs2007044) and psychiatric disorders (bipolar disorder, schizophrenia, major depression, autism), then presents preclinical studies using conditional knockout mouse models to elucidate the neurobiological mechanisms underlying these genetic associations through behavioral testing, electrophysiology, and molecular analyses.

Traits studied:Anxiety-related behaviorAutism spectrum disorderBipolar disorderBrain structure alterationsCognitive deficitsEarly life stressMajor depressionSchizophreniaStress coping behaviorWorking memory

PubMed DOI Metascience Observatory

About CACNA1C

This gene encodes an alpha-1 subunit of a voltage-dependent calcium channel. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization. The alpha-1 subunit consists of 24 transmembrane segments and forms the pore through which ions pass into the cell. The calcium channel consists of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. There are multiple isoforms of each of these proteins, either encoded by different genes or the result of alternative splicing of transcripts. The protein encoded by this gene binds to and is inhibited by dihydropyridine. Alternative splicing results in many transcript variants encoding different proteins. Some of the predicted proteins may not produce functional ion channel subunits. [provided by RefSeq, Oct 2012]