Variant (rsID / SNP)

rs192863857

rs192863857 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RYR1. Location: chromosome 19, position 38,976,612. Clinical significance in the table: Benign.

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Reference-table entries

RYR1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 19:38976612
Cytoband: 19q13.2
HGVS: NM_000540.3(RYR1):c.5317C>T (p.Pro1773Ser)
Allele change: Missense_P1773S

Associated conditions / phenotypes

Malignant hyperthermia, susceptibility to, 1|Neuromuscular disease, congenital, with uniform type 1 fiber|Central core myopathy|Congenital multicore myopathy with external ophthalmoplegia|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.