Variant (rsID / SNP)

rs118192119

rs118192119 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RYR1. Location: chromosome 19, position 38,945,968. 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: 19:38945968
Cytoband: 19q13.2
HGVS: NM_000540.3(RYR1):c.1534G>A (p.Glu512Lys)
Allele change: Missense_E512K

Associated conditions / phenotypes

Central core myopathy|RYR1-Related Disorders

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.