Variant (rsID / SNP)

rs193922868

rs193922868 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RYR1. Location: chromosome 19, position 39,068,595. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

RYR1Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 19:39068595
Cytoband: 19q13.2
HGVS: NM_000540.3(RYR1):c.14210G>A (p.Arg4737Gln)
Allele change: Missense_R4732Q

Associated conditions / phenotypes

RYR1-Related Disorders|Malignant hyperthermia of anesthesia

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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