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Variant (rsID / SNP)

rs61739895

RYR1

rs61739895 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RYR1. Location: chromosome 19, position 39,052,058. 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
19:39052058
Cytoband
19q13.2
HGVS
NM_000540.3(RYR1):c.12588C>T (p.Ile4196=)
Allele change
Synonymous_I4191I

Associated conditions / phenotypes

Neuromuscular disease, congenital, with uniform type 1 fiber|Central core myopathy|Multiminicore myopathy|Malignant hyperthermia of anesthesia|RYR1-Related Disorders

Public references

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