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Variant (rsID / SNP)

rs118192122

RYR1

rs118192122 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RYR1. Location: chromosome 19, position 38,991,283. Clinical significance in the table: Pathogenic; drug response.

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Reference-table entries

RYR1Pathogenic
Clinical significance (as recorded)
Pathogenic; drug response
Variant type
single nucleotide variant
Chromosome / position
19:38991283
Cytoband
19q13.2
HGVS
NM_000540.3(RYR1):c.7361G>A (p.Arg2454His)
Allele change
Missense_R2454H

Associated conditions / phenotypes

Central core myopathy|RYR1-Related Disorders|Malignant hyperthermia, susceptibility to, 1|enflurane response - Toxicity|isoflurane response - Toxicity|desflurane response - Toxicity|sevoflurane response - Toxicity|succinylcholine response - Toxicity|halothane response - Toxicity|methoxyflurane response - Toxicity

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.