Variant (rsID / SNP)
rs370634440
rs370634440 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RYR1. Location: chromosome 19, position 38,954,139. Clinical significance in the table: Uncertain significance.
Reference-table entries
RYR1Uncertain significance
- Clinical significance (as recorded)
- Uncertain significance
- Variant type
- single nucleotide variant
- Chromosome / position
- 19:38954139
- Cytoband
- 19q13.2
- HGVS
- NM_000540.3(RYR1):c.2654G>A (p.Arg885His)
- Allele change
- Missense_R885H
Associated conditions / phenotypes
Malignant hyperthermia, susceptibility to, 1|Neuromuscular disease, congenital, with uniform type 1 fiber|Myopathy|Central core myopathy|RYR1-Related Disorders|Congenital multicore myopathy with external ophthalmoplegia|Congenital myopathy with fiber type disproportion|Myopathy, RYR1-associated
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.