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Variant (rsID / SNP)

rs1057518970

RYR1

rs1057518970 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RYR1. Location: chromosome 19, position 38,939,038. 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
19:38939038
Cytoband
19q13.2
HGVS
NM_000540.3(RYR1):c.844C>T (p.Arg282Trp)
Allele change
Missense_R282W

Associated conditions / phenotypes

Congenital muscular dystrophy|Respiratory insufficiency|Myopathy

Public references

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