Variant (rsID / SNP)
rs193922803
rs193922803 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RYR1. Location: chromosome 19, position 38,990,310. Clinical significance in the table: Pathogenic; drug response.
Reference-table entries
- Clinical significance (as recorded)
- Pathogenic; drug response
- Variant type
- single nucleotide variant
- Chromosome / position
- 19:38990310
- Cytoband
- 19q13.2
- HGVS
- NM_000540.3(RYR1):c.7063C>T (p.Arg2355Trp)
- Allele change
- Missense_R2355W
Associated conditions / phenotypes
Congenital multicore myopathy with external ophthalmoplegia|Congenital myopathy with fiber type disproportion|Central core myopathy|Congenital multicore myopathy with external ophthalmoplegia|Malignant hyperthermia, susceptibility to, 1|RYR1-Related Disorders|desflurane response - Toxicity|enflurane response - Toxicity|halothane response - Toxicity|isoflurane response - Toxicity|succinylcholine response - Toxicity|methoxyflurane response - Toxicity|sevoflurane response - Toxicity|Malignant hyperthermia, susceptibility to, 1
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.