Variant (rsID / SNP)

rs118192121

rs118192121 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RYR1. Location: chromosome 19, position 38,987,550. Clinical significance in the table: Uncertain significance.

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Reference-table entries

RYR1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 19:38987550
Cytoband: 19q13.2
HGVS: NM_000540.3(RYR1):c.6847A>C (p.Asn2283His)
Allele change: Missense_N2283H

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.