Variant (rsID / SNP)
rs146429605
rs146429605 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RYR1. Location: chromosome 19, position 38,973,933. Clinical significance in the table: Likely benign.
Reference-table entries
RYR1Likely benign
- Clinical significance (as recorded)
- Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 19:38973933
- Cytoband
- 19q13.2
- HGVS
- NM_000540.3(RYR1):c.4711A>G (p.Ile1571Val)
- Allele change
- Missense_I1571V
Associated conditions / phenotypes
Malignant hyperthermia, susceptibility to, 1|RYR1-Related Disorders|Central core myopathy|Congenital multicore myopathy with external ophthalmoplegia|Congenital myopathy with fiber type disproportion|Malignant hyperthermia, susceptibility to, 1|Central core myopathy|See cases
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.