Variant (rsID / SNP)

rs121918597

rs121918597 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RYR2. Location: chromosome 1, position 237,798,237. Clinical significance in the table: Pathogenic.

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Reference-table entries

RYR2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:237798237
Cytoband: 1q43
HGVS: NM_001035.3(RYR2):c.6737C>T (p.Ser2246Leu)
Allele change: Missense_S2246L

Associated conditions / phenotypes

Catecholaminergic polymorphic ventricular tachycardia 1|Catecholaminergic polymorphic ventricular tachycardia|Cardiomyopathy

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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