Variant (rsID / SNP)

rs794728788

rs794728788 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RYR2. Location: chromosome 1, position 237,947,557. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

RYR2Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 1:237947557
Cytoband: 1q43
HGVS: NM_001035.3(RYR2):c.12545A>C (p.Glu4182Ala)
Allele change: Missense_E4182A

Associated conditions / phenotypes

Catecholaminergic polymorphic ventricular tachycardia|Cardiomyopathy

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.