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Variant (rsID / SNP)

rs758500988

RYR2

rs758500988 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RYR2. Location: chromosome 1, position 237,995,912. 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
1:237995912
Cytoband
1q43
HGVS
NM_001035.3(RYR2):c.14869T>A (p.Cys4957Ser)
Allele change
Missense_C4957S

Associated conditions / phenotypes

Cardiomyopathy|Catecholaminergic polymorphic ventricular tachycardia

Public references

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