Variant (rsID / SNP)

rs1057518885

rs1057518885 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RYR1. Location: chromosome 19, position 39,052,002. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

RYR1Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 19:39052002
Cytoband: 19q13.2
HGVS: NM_000540.3(RYR1):c.12532G>A (p.Gly4178Ser)
Allele change: Missense_G4173S

Associated conditions / phenotypes

RYR1-Related Disorders|Malignant hyperthermia of anesthesia

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.