Variant (rsID / SNP)

rs193922771

rs193922771 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RYR1. Location: chromosome 19, position 38,946,338. Clinical significance in the table: Pathogenic.

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Reference-table entries

RYR1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Duplication
Chromosome / position: 19:38946338
Cytoband: 19q13.2
HGVS: NM_000540.3(RYR1):c.1739_1742dup (p.His581fs)

Associated conditions / phenotypes

Congenital multicore myopathy with external ophthalmoplegia

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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