Variant (rsID / SNP)

rs193922836

rs193922836 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RYR1. Location: chromosome 19, position 39,013,751. Clinical significance in the table: Pathogenic.

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Reference-table entries

RYR1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 19:39013751
Cytoband: 19q13.2
HGVS: NM_000540.3(RYR1):c.10343C>T (p.Ser3448Phe)
Allele change: Missense_S3448F

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.