Variant (rsID / SNP)

rs876661306

rs876661306 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RYR1. Location: chromosome 19, position 38,948,862. Clinical significance in the table: Pathogenic.

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Reference-table entries

RYR1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Deletion
Chromosome / position: 19:38948862
Cytoband: 19q13.2
HGVS: NM_000540.3(RYR1):c.2097_2123del (p.Glu699_Gly707del)

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.