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Variant (rsID / SNP)

rs200450676

RYR2

rs200450676 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RYR2. Location: chromosome 1, position 237,758,826. 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
1:237758826
Cytoband
1q43
HGVS
NM_001035.3(RYR2):c.4465T>C (p.Cys1489Arg)
Allele change
Missense_C1489R

Associated conditions / phenotypes

Arrhythmogenic right ventricular dysplasia 2|Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia|Long QT syndrome|Cardiomyopathy

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.