Variant (rsID / SNP)
rs118192168
rs118192168 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RYR1. Location: chromosome 19, position 39,071,043. Clinical significance in the table: drug response.
Reference-table entries
- Clinical significance (as recorded)
- drug response
- Variant type
- single nucleotide variant
- Chromosome / position
- 19:39071043
- Cytoband
- 19q13.2
- HGVS
- NM_000540.3(RYR1):c.14545G>A (p.Val4849Ile)
- Allele change
- Missense_V4844I
Associated conditions / phenotypes
Congenital multicore myopathy with external ophthalmoplegia|Central core disease, autosomal recessive|Malignant hyperthermia, susceptibility to, 1|RYR1-Related Disorders|enflurane response - Toxicity|halothane response - Toxicity|isoflurane response - Toxicity|methoxyflurane response - Toxicity|desflurane response - Toxicity|sevoflurane response - Toxicity|succinylcholine response - Toxicity|See cases
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.