Variant (rsID / SNP)

rs794728786

rs794728786 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RYR2. Location: chromosome 1, position 237,947,482. Clinical significance in the table: Pathogenic.

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Reference-table entries

RYR2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:237947482
Cytoband: 1q43
HGVS: NM_001035.3(RYR2):c.12470G>A (p.Arg4157Gln)
Allele change: Missense_R4157Q

Associated conditions / phenotypes

Catecholaminergic polymorphic ventricular tachycardia

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.