rs199784482

This variant is located in the CMYA5 gene.

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ClinVar annotation

Likely Benign★☆☆☆

1 submitter1 publication

About CMYA5

Predicted to enable identical protein binding activity and protein phosphatase inhibitor activity. Predicted to act upstream of or within negative regulation of calcineurin-NFAT signaling cascade and regulation of skeletal muscle adaptation. Predicted to be located in several cellular components, including costamere; perinuclear region of cytoplasm; and sarcoplasmic reticulum. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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