Variant (rsID / SNP)

rs139161723

rs139161723 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RYR1. Location: chromosome 19, position 38,931,470. Clinical significance in the table: Uncertain significance.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

RYR1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 19:38931470
Cytoband: 19q13.2
HGVS: NM_000540.3(RYR1):c.131G>A (p.Arg44His)
Allele change: Missense_R44H

Associated conditions / phenotypes

Malignant hyperthermia, susceptibility to, 1|RYR1-Related Disorders|Central core disease, autosomal recessive

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.