Variant (rsID / SNP)

rs118192126

rs118192126 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RYR1. Location: chromosome 19, position 39,009,935. Clinical significance in the table: Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

RYR1Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 19:39009935
Cytoband: 19q13.2
HGVS: NM_000540.3(RYR1):c.10100A>G (p.Lys3367Arg)
Allele change: Missense_K3367R

Associated conditions / phenotypes

Central core myopathy|Malignant hyperthermia, susceptibility to, 1

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.