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Variant (rsID / SNP)

rs200563280

RYR1

rs200563280 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RYR1. Location: chromosome 19, position 38,987,106. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

RYR1Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
19:38987106
Cytoband
19q13.2
HGVS
NM_000540.3(RYR1):c.6721C>T (p.Arg2241Ter)
Allele change
Nonsense_R2241X

Associated conditions / phenotypes

Multi-minicore disease and atypical periodic paralysis|Congenital multicore myopathy with external ophthalmoplegia|Malignant hyperthermia, susceptibility to, 1|Central core myopathy|Neuromuscular disease|RYR1-Related Disorders|Hydrops fetalis|Central core myopathy

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.