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Variant (rsID / SNP)

rs376612295

RYR2

rs376612295 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RYR2. Location: chromosome 1, position 237,617,794. Clinical significance in the table: Uncertain significance.

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Reference-table entries

RYR2Uncertain significance
Clinical significance (as recorded)
Uncertain significance
Variant type
single nucleotide variant
Chromosome / position
1:237617794
Cytoband
1q43
HGVS
NM_001035.3(RYR2):c.1396C>G (p.Pro466Ala)
Allele change
Missense_P466A

Associated conditions / phenotypes

Polymorphic ventricular tachycardia|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.