Variant (rsID / SNP)
rs1057518940
rs1057518940 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RYR1. Location: chromosome 19, position 38,990,358. 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
- 19:38990358
- Cytoband
- 19q13.2
- HGVS
- NM_000540.3(RYR1):c.7111G>A (p.Glu2371Lys)
- Allele change
- Missense_E2371K
Associated conditions / phenotypes
Congenital contracture|Proximal amyotrophy|Short stature|Delayed gross motor development|Congenital myopathy with fiber type disproportion|RYR1-Related Disorders
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.