Variant (rsID / SNP)
rs111436401
rs111436401 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RYR1. Location: chromosome 19, position 39,013,756. 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
- 19:39013756
- Cytoband
- 19q13.2
- HGVS
- NM_000540.3(RYR1):c.10347+1G>A
- Allele change
- Silent
Associated conditions / phenotypes
Inborn genetic diseases|RYR1-Related Disorders|Congenital myopathy with fiber type disproportion|Central core myopathy|Malignant hyperthermia, susceptibility to, 1|Congenital multicore myopathy with external ophthalmoplegia|Congenital multicore myopathy with external ophthalmoplegia|Malignant hyperthermia, susceptibility to, 1
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.