Variant (rsID / SNP)

rs118204423

rs118204423 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RYR1. Location: chromosome 19, position 38,948,179. 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: 19:38948179
Cytoband: 19q13.2
HGVS: NM_000540.3(RYR1):c.1834G>A (p.Ala612Thr)
Allele change: Missense_A612P

Associated conditions / phenotypes

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.