rs193922748
This is a variant in the RYR1 gene that changes a arginine to an cysteine.
▶ClinVar annotation
Central core myopathy (CMYO1A); Congenital multicore myopathy with external ophthalmoplegia (CMYO1B); King Denborough syndrome (KDS); Malignant hyperthermia of anesthesia; Malignant hyperthermia, susceptibility to, 1 (MHS1); RYR1-related disorder; desflurane response - Toxicity; enflurane response - Toxicity; halothane response - Toxicity; isoflurane response - Toxicity; methoxyflurane response - Toxicity; sevoflurane response - Toxicity; succinylcholine response - Toxicity
View on ClinVar →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]
View all RYR1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
Community Wiki
No community notes yet for this variant. Sign in to start one.
Comments
Sign in to join the discussion.
Loading comments…