Variant (rsID / SNP)

rs367543057

rs367543057 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RYR1. Location: chromosome 19, position 39,008,291. Clinical significance in the table: Uncertain significance.

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Reference-table entries

RYR1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 19:39008291
Cytoband: 19q13.2
HGVS: NM_000540.3(RYR1):c.9978C>A (p.Asn3326Lys)
Allele change: Missense_N3326K

Associated conditions / phenotypes

Congenital myopathy with fiber type disproportion|RYR1-Related Disorders

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.