Variant (rsID / SNP)

rs143849895

rs143849895 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RYR1. Location: chromosome 19, position 39,057,593. The table records no clinical significance for this variant.

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Reference-table entries

RYR1Not classified

Variant type: single nucleotide variant
Chromosome / position: 19:39057593
Cytoband: 19q13.2
HGVS: NM_000540.3(RYR1):c.13480G>T (p.Glu4494Ter)
Allele change: Nonsense_E4489X

Associated conditions / phenotypes

Congenital myopathy with fiber type disproportion

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.