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Variant (rsID / SNP)

rs200355885

RYR1

rs200355885 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RYR1. Location: chromosome 19, position 39,009,883. Clinical significance in the table: Likely benign.

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Reference-table entries

RYR1Likely benign
Clinical significance (as recorded)
Likely benign
Variant type
single nucleotide variant
Chromosome / position
19:39009883
Cytoband
19q13.2
HGVS
NM_000540.3(RYR1):c.10048C>A (p.Arg3350=)
Allele change
Synonymous_R3350R

Associated conditions / phenotypes

Central core myopathy|Malignant hyperthermia of anesthesia|Neuromuscular disease, congenital, with uniform type 1 fiber|Multiminicore myopathy|RYR1-Related Disorders

Public references

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