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Variant (rsID / SNP)

rs138704724

RYR1

rs138704724 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RYR1. Location: chromosome 19, position 38,948,856. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

RYR1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
19:38948856
Cytoband
19q13.2
HGVS
NM_000540.3(RYR1):c.2091C>T (p.Ala697=)
Allele change
Synonymous_A697A

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

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