Variant (rsID / SNP)
rs886042171
rs886042171 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RYR1. Location: chromosome 19, position 39,051,785. Clinical significance in the table: Pathogenic.
Reference-table entries
RYR1Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- Deletion
- Chromosome / position
- 19:39051785
- Cytoband
- 19q13.2
- HGVS
- NM_000540.3(RYR1):c.12315_12328del (p.Glu4106fs)
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.