rs375755030

This variant is located in the RYR1 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

Malignant hyperthermia, susceptibility to, 1; Congenital multicore myopathy with external ophthalmoplegia

About RYR1

This gene encodes a ryanodine receptor found in skeletal muscle. The encoded protein functions as a calcium release channel in the sarcoplasmic reticulum but also serves to connect the sarcoplasmic reticulum and transverse tubule. Mutations in this gene are associated with malignant hyperthermia susceptibility, central core disease, and minicore myopathy with external ophthalmoplegia. Alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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