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Variant (rsID / SNP)

rs794728754

RYR2

rs794728754 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RYR2. Location: chromosome 1, position 237,804,241. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

RYR2Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
1:237804241
Cytoband
1q43
HGVS
NM_001035.3(RYR2):c.7160C>T (p.Ala2387Val)
Allele change
Missense_A2387V

Associated conditions / phenotypes

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

Public references

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