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Variant (rsID / SNP)

rs147723844

RYR1

rs147723844 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RYR1. Location: chromosome 19, position 38,945,887. 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
19:38945887
Cytoband
19q13.2
HGVS
NM_000540.3(RYR1):c.1453A>G (p.Met485Val)
Allele change
Missense_M485V

Associated conditions / phenotypes

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

Public references

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