Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs146504767

RYR1

rs146504767 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RYR1. Location: chromosome 19, position 38,976,331. Clinical significance in the table: Likely benign.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

RYR1Likely benign
Clinical significance (as recorded)
Likely benign
Variant type
single nucleotide variant
Chromosome / position
19:38976331
Cytoband
19q13.2
HGVS
NM_000540.3(RYR1):c.5036G>A (p.Arg1679His)
Allele change
Missense_R1679H

Associated conditions / phenotypes

Malignant hyperthermia, susceptibility to, 1|Congenital multicore myopathy with external ophthalmoplegia|Central core myopathy|Neuromuscular disease, congenital, with uniform type 1 fiber|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.