Variant (rsID / SNP)

rs11083462

rs11083462 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RYR1. Location: chromosome 19, position 38,959,680. 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: 19:38959680
Cytoband: 19q13.2
HGVS: NM_000540.3(RYR1):c.3456C>T (p.Ile1152=)
Allele change: Synonymous_I1152I

Associated conditions / phenotypes

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