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Variant (rsID / SNP)

rs41267517

RYR2

rs41267517 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RYR2. Location: chromosome 1, position 237,947,171. 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
1:237947171
Cytoband
1q43
HGVS
NM_001035.3(RYR2):c.12159G>A (p.Glu4053=)
Allele change
Synonymous_E4053E

Associated conditions / phenotypes

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