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Variant (rsID / SNP)

rs200546266

RYR1

rs200546266 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RYR1. Location: chromosome 19, position 38,968,461. 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
19:38968461
Cytoband
19q13.2
HGVS
NM_000540.3(RYR1):c.4405C>T (p.Arg1469Trp)
Allele change
Missense_R1469W

Associated conditions / phenotypes

Congenital myopathy|RYR1-Related Disorders|Fetal akinesia deformation sequence 1|Arthrogryposis multiplex congenita|Congenital myopathy with fiber type disproportion

Public references

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