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Variant (rsID / SNP)

rs375021201

RYR2

rs375021201 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RYR2. Location: chromosome 1, position 237,947,059. 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
1:237947059
Cytoband
1q43
HGVS
NM_001035.3(RYR2):c.12047T>A (p.Phe4016Tyr)
Allele change
Missense_F4016Y

Associated conditions / phenotypes

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

Public references

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