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Variant (rsID / SNP)

rs118192166

RYR1

rs118192166 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RYR1. Location: chromosome 19, position 39,062,821. 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
19:39062821
Cytoband
19q13.2
HGVS
NM_000540.3(RYR1):c.13909A>G (p.Thr4637Ala)
Allele change
Missense_T4632A

Associated conditions / phenotypes

Central core myopathy|RYR1-Related Disorders|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.