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Variant (rsID / SNP)

rs1226228092

RYR1

rs1226228092 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RYR1. Location: chromosome 19, position 38,983,277. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

RYR1Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
19:38983277
Cytoband
19q13.2
HGVS
NM_000540.3(RYR1):c.6274+1G>A
Allele change
Silent

Associated conditions / phenotypes

RYR1-Related Disorders|Multiminicore myopathy

Public references

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