Variant (rsID / SNP)
rs377178986
rs377178986 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RYR1. Location: chromosome 19, position 39,034,060. Clinical significance in the table: Pathogenic.
Reference-table entries
RYR1Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 19:39034060
- Cytoband
- 19q13.2
- HGVS
- NM_000540.3(RYR1):c.11763C>A (p.Tyr3921Ter)
- Allele change
- Nonsense_Y3916X
Associated conditions / phenotypes
Congenital myopathy|RYR1-Related Disorders|Central core myopathy|Congenital multicore myopathy with external ophthalmoplegia|Congenital myopathy with fiber type disproportion|Malignant hyperthermia, susceptibility to, 1|Malignant hyperthermia, susceptibility to, 1|Inborn genetic diseases|Congenital myopathy with fiber type disproportion
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.