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Variant (rsID / SNP)

rs147213895

RYR1

rs147213895 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RYR1. Location: chromosome 19, position 38,989,881. 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
19:38989881
Cytoband
19q13.2
HGVS
NM_000540.3(RYR1):c.7025A>G (p.Asn2342Ser)
Allele change
Missense_N2342S

Associated conditions / phenotypes

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

Public references

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