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Variant (rsID / SNP)

rs114975624

RYR1

rs114975624 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RYR1. Location: chromosome 19, position 38,993,269. 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
19:38993269
Cytoband
19q13.2
HGVS
NM_000540.3(RYR1):c.7737G>A (p.Val2579=)
Allele change
Synonymous_V2579V

Associated conditions / phenotypes

Congenital multicore myopathy with external ophthalmoplegia|Malignant hyperthermia, susceptibility to, 1|Central core myopathy|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.