Variant (rsID / SNP)

rs121918602

rs121918602 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RYR2. Location: chromosome 1, position 237,617,696. 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: 1:237617696
Cytoband: 1q43
HGVS: NM_001035.3(RYR2):c.1298T>C (p.Leu433Pro)
Allele change: Missense_L433P

Associated conditions / phenotypes

Arrhythmogenic right ventricular dysplasia 2|Catecholaminergic polymorphic ventricular tachycardia|Long QT syndrome|Cardiovascular phenotype

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.