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Variant (rsID / SNP)

rs561321743

RYR2

rs561321743 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RYR2. Location: chromosome 1, position 237,670,026. 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
1:237670026
Cytoband
1q43
HGVS
NM_001035.3(RYR2):c.2630A>C (p.His877Pro)
Allele change
Missense_H877P

Associated conditions / phenotypes

Primary familial hypertrophic cardiomyopathy|Catecholaminergic polymorphic ventricular tachycardia|Cardiomyopathy|Hypertrophic cardiomyopathy

Public references

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