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Variant (rsID / SNP)

rs116442127

RYR2

rs116442127 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RYR2. Location: chromosome 1, position 237,870,334. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

RYR2Benign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
1:237870334
Cytoband
1q43
HGVS
NM_001035.3(RYR2):c.9666C>T (p.Ala3222=)
Allele change
Synonymous_A3222A

Associated conditions / phenotypes

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