Variant (rsID / SNP)

rs143987857

rs143987857 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RYR1. Location: chromosome 19, position 39,016,132. Clinical significance in the table: Likely benign.

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Reference-table entries

RYR1Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 19:39016132
Cytoband: 19q13.2
HGVS: NM_000540.3(RYR1):c.10616G>A (p.Arg3539His)
Allele change: Missense_R3534H

Associated conditions / phenotypes

Central core myopathy|Malignant hyperthermia, susceptibility to, 1|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.