Variant (rsID / SNP)
rs118192140
rs118192140 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RYR1. Location: chromosome 19, position 39,063,944. Clinical significance in the table: Uncertain significance.
Reference-table entries
- Clinical significance (as recorded)
- Uncertain significance
- Variant type
- single nucleotide variant
- Chromosome / position
- 19:39063944
- Cytoband
- 19q13.2
- HGVS
- NM_000540.3(RYR1):c.14126C>T (p.Thr4709Met)
- Allele change
- Missense_T4704M
Associated conditions / phenotypes
Central core myopathy|Congenital multicore myopathy with external ophthalmoplegia|RYR1-Related Disorders|Congenital multicore myopathy with external ophthalmoplegia|Congenital myopathy with fiber type disproportion|Central core myopathy|Malignant hyperthermia, susceptibility to, 1|Malignant hyperthermia, susceptibility to, 1|Abnormality of the musculature|Congenital multicore myopathy with external ophthalmoplegia|Central core myopathy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.