Homo sapiens calcium voltage-gated channel subunit alpha1 S (CACNA1S), - Nucleotide

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Biallellic variants in CACNA1S cause fetal akinesia sequence, progressive hydrops and stillbirth. [Prenat Diagn. 2023]
Biallellic variants in CACNA1S cause fetal akinesia sequence, progressive hydrops and stillbirth.
Seed E, Noon F, Milnes D, Roscioli T, Kristensen K, Ellwood D, DaSilva Costa F. Prenat Diagn. 2023 Dec; 43(13):1678-1681. Epub 2023 Dec 18.
CACNA1S Variant Associated With a Myalgic Myopathy Phenotype. [Neurology. 2023]
CACNA1S Variant Associated With a Myalgic Myopathy Phenotype.
Periviita V, Palmio J, Jokela M, Hartikainen P, Vihola A, Rauramaa T, Udd B. Neurology. 2023 Oct 31; 101(18):e1779-e1786. Epub 2023 Sep 7.
Congenital Myopathy as a Phenotypic Expression of CACNA1S Gene Mutation: Case Report and Systematic Review of the Literature. [Genes (Basel). 2023]
Congenital Myopathy as a Phenotypic Expression of CACNA1S Gene Mutation: Case Report and Systematic Review of the Literature.
Marinella G, Orsini A, Scacciati M, Costa E, Santangelo A, Astrea G, Frosini S, Pasquariello R, Rubegni A, Sgherri G, et al. Genes (Basel). 2023 Jun 28; 14(7). Epub 2023 Jun 28.

RefSeq alternative splicing
See 3 reference mRNA sequence splice variants for the CACNA1S gene.

Protein
Protein sequence from Nucleotide coding region
PubMed
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Taxonomy
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OMIM
OMIM records associated with Nucleotide sequence
PubMed (Weighted)
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RNA
RNA sequence records that are annotated on the current genomic nucleotide sequences. The RNA records represent aligned or predicted transcripts of the current records.