Variant (rsID / SNP)

rs201081663

rs201081663 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RYR2. Location: chromosome 1, position 237,872,179. Clinical significance in the table: Likely benign.

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Reference-table entries

RYR2Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 1:237872179
Cytoband: 1q43
HGVS: NM_001035.3(RYR2):c.9923A>G (p.Asn3308Ser)
Allele change: Missense_N3308S

Associated conditions / phenotypes

Primary familial hypertrophic cardiomyopathy|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.