rs375998723

This variant is located in the RYR3 gene.

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ClinVar annotation

Conflicting Classifications
3 submitters2 publications

Epileptic encephalopathy; not specified; Congenital myopathy 20

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About RYR3

The protein encoded by this gene is a ryanodine receptor, which functions to release calcium from intracellular storage for use in many cellular processes. For example, the encoded protein is involved in skeletal muscle contraction by releasing calcium from the sarcoplasmic reticulum followed by depolarization of T-tubules. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]

View all RYR3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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