Variant (rsID / SNP)
rs779723153
rs779723153 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RYR1. Location: chromosome 19, position 38,976,635. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
RYR1Pathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- Deletion
- Chromosome / position
- 19:38976635
- Cytoband
- 19q13.2
- HGVS
- NM_000540.3(RYR1):c.5340_5341del (p.Cys1781fs)
Associated conditions / phenotypes
RYR1-Related Disorders
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.