Variant (rsID / SNP)
rs1248355799
rs1248355799 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RYR1. Location: chromosome 19, position 38,976,410. Clinical significance in the table: Pathogenic.
Reference-table entries
RYR1Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- Deletion
- Chromosome / position
- 19:38976410
- Cytoband
- 19q13.2
- HGVS
- NM_000540.3(RYR1):c.5115_5122del (p.Leu1706fs)
Associated conditions / phenotypes
Inborn genetic diseases
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.