Variant (rsID / SNP)
rs147136339
rs147136339 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RYR1. Location: chromosome 19, position 39,034,191. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
RYR1Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 19:39034191
- Cytoband
- 19q13.2
- HGVS
- NM_000540.3(RYR1):c.11798A>G (p.Tyr3933Cys)
- Allele change
- Missense_Y3928C
Associated conditions / phenotypes
Malignant hyperthermia, susceptibility to, 1|RYR1-Related Disorders|Congenital myopathy with fiber type disproportion|Central core myopathy|Congenital multicore myopathy with external ophthalmoplegia|Malignant hyperthermia, susceptibility to, 1|Central core myopathy|See cases
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.