Variant (rsID / SNP)
rs118192167
rs118192167 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RYR1. Location: chromosome 19, position 39,070,644. Clinical significance in the table: drug response.
Reference-table entries
RYR1Drug response
- Clinical significance (as recorded)
- drug response
- Variant type
- single nucleotide variant
- Chromosome / position
- 19:39070644
- Cytoband
- 19q13.2
- HGVS
- NM_000540.3(RYR1):c.14387A>G (p.Tyr4796Cys)
- Allele change
- Missense_Y4791C
Associated conditions / phenotypes
Central core myopathy|Malignant hyperthermia, susceptibility to, 1|RYR1-Related Disorders|enflurane response - Toxicity|halothane response - Toxicity|isoflurane response - Toxicity|methoxyflurane response - Toxicity|sevoflurane response - Toxicity|succinylcholine response - Toxicity|desflurane response - Toxicity
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.