Variant (rsID / SNP)

rs121918601

rs121918601 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RYR2. Location: chromosome 1, position 237,804,238. 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: 1:237804238
Cytoband: 1q43
HGVS: NM_001035.3(RYR2):c.7157A>T (p.Asn2386Ile)
Allele change: Missense_N2386I

Associated conditions / phenotypes

Arrhythmogenic right ventricular dysplasia 2

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.