Variant (rsID / SNP)
rs193922837
rs193922837 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RYR1. Location: chromosome 19, position 39,013,851. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
RYR1Pathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 19:39013851
- Cytoband
- 19q13.2
- HGVS
- NM_000540.3(RYR1):c.10348-6C>G
- Allele change
- Silent
Associated conditions / phenotypes
RYR1-Related Disorders|Inborn genetic diseases|Congenital myopathy with fiber type disproportion|Central core myopathy|Congenital multicore myopathy with external ophthalmoplegia|Malignant hyperthermia, susceptibility to, 1|King Denborough syndrome|Central core myopathy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.