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Variant (rsID / SNP)

rs186906598

RYR2

rs186906598 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RYR2. Location: chromosome 1, position 237,791,277. 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
1:237791277
Cytoband
1q43
HGVS
NM_001035.3(RYR2):c.6337G>A (p.Val2113Met)
Allele change
Missense_V2113M

Associated conditions / phenotypes

Catecholaminergic polymorphic ventricular tachycardia 1|Cardiovascular phenotype|Cardiomyopathy|Catecholaminergic polymorphic ventricular tachycardia|Arrhythmogenic right ventricular dysplasia 2

Public references

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