Variant (rsID / SNP)

rs118192123

rs118192123 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RYR1. Location: chromosome 19, position 38,991,280. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

RYR1Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 19:38991280
Cytoband: 19q13.2
HGVS: NM_000540.3(RYR1):c.7358T>C (p.Ile2453Thr)
Allele change: Missense_I2453T

Associated conditions / phenotypes

Central core myopathy|RYR1-Related Disorders|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.