Variant (rsID / SNP)
rs193922809
rs193922809 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RYR1. Location: chromosome 19, position 38,990,615. Clinical significance in the table: Likely pathogenic; drug response.
Reference-table entries
- Clinical significance (as recorded)
- Likely pathogenic; drug response
- Variant type
- single nucleotide variant
- Chromosome / position
- 19:38990615
- Cytoband
- 19q13.2
- HGVS
- NM_000540.3(RYR1):c.7282G>A (p.Ala2428Thr)
- Allele change
- Missense_A2428T
Associated conditions / phenotypes
Malignant hyperthermia, susceptibility to, 1|Congenital multicore myopathy with external ophthalmoplegia|Central core myopathy|RYR1-Related Disorders|desflurane response - Toxicity|halothane response - Toxicity|enflurane response - Toxicity|isoflurane response - Toxicity|methoxyflurane response - Toxicity|sevoflurane response - Toxicity|succinylcholine response - Toxicity
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.