Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs118192135

RYR1

rs118192135 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RYR1. Location: chromosome 19, position 39,062,825. 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
19:39062825
Cytoband
19q13.2
HGVS
NM_000540.3(RYR1):c.13913G>A (p.Gly4638Asp)
Allele change
Missense_G4633D

Associated conditions / phenotypes

Central core myopathy|Malignant hyperthermia of anesthesia|Congenital myopathy with fiber type disproportion

Public references

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