Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs111888148

RYR1

rs111888148 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RYR1. Location: chromosome 19, position 38,946,103. Clinical significance in the table: Uncertain significance.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

RYR1Uncertain significance
Clinical significance (as recorded)
Uncertain significance
Variant type
single nucleotide variant
Chromosome / position
19:38946103
Cytoband
19q13.2
HGVS
NM_000540.3(RYR1):c.1589G>A (p.Arg530His)
Allele change
Missense_R530H

Associated conditions / phenotypes

Malignant hyperthermia, susceptibility to, 1|RYR1-Related Disorders|King Denborough syndrome|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.