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Variant (rsID / SNP)

rs199738299

RYR1

rs199738299 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RYR1. Location: chromosome 19, position 39,006,807. Clinical significance in the table: Uncertain significance.

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Reference-table entries

RYR1Uncertain significance
Clinical significance (as recorded)
Uncertain significance
Variant type
single nucleotide variant
Chromosome / position
19:39006807
Cytoband
19q13.2
HGVS
NM_000540.3(RYR1):c.9635A>G (p.Glu3212Gly)
Allele change
Missense_E3212G

Associated conditions / phenotypes

Congenital multicore myopathy with external ophthalmoplegia|Central core myopathy|Neuromuscular disease, congenital, with uniform type 1 fiber|Malignant hyperthermia, susceptibility to, 1|RYR1-Related Disorders|Congenital myopathy with fiber type disproportion|Malignant hyperthermia of anesthesia

Public references

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