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Variant (rsID / SNP)

rs587784379

RYR1

rs587784379 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RYR1. Location: chromosome 19, position 39,006,751. 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
19:39006751
Cytoband
19q13.2
HGVS
NM_000540.3(RYR1):c.9579C>G (p.Cys3193Trp)
Allele change
Missense_C3193W

Associated conditions / phenotypes

Fetal akinesia deformation sequence 1|Arthrogryposis multiplex congenita|RYR1-Related Disorders|Central core myopathy

Public references

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