Variant (rsID / SNP)
rs193922781
rs193922781 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RYR1. Location: chromosome 19, position 38,976,478. 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
- 19:38976478
- Cytoband
- 19q13.2
- HGVS
- NM_000540.3(RYR1):c.5183C>T (p.Ser1728Phe)
- Allele change
- Missense_S1728F
Associated conditions / phenotypes
Malignant hyperthermia, susceptibility to, 1|RYR1-Related Disorders|Inborn genetic diseases|Malignant hyperthermia of anesthesia
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.