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Variant (rsID / SNP)

rs180714609

RYR1

rs180714609 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RYR1. Location: chromosome 19, position 38,956,856. Clinical significance in the table: Uncertain significance.

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Reference-table entries

RYR1Uncertain significance
Clinical significance (as recorded)
Uncertain significance
Variant type
single nucleotide variant
Chromosome / position
19:38956856
Cytoband
19q13.2
HGVS
NM_000540.3(RYR1):c.2996G>A (p.Arg999His)
Allele change
Missense_R999H

Associated conditions / phenotypes

Neuromuscular disease, congenital, with uniform type 1 fiber|Malignant hyperthermia, susceptibility to, 1|Congenital multicore myopathy with external ophthalmoplegia|Central core myopathy|RYR1-Related Disorders

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.