Variant (rsID / SNP)
rs200525962
rs200525962 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RYR2. Location: chromosome 1, position 237,730,032. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
RYR2Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:237730032
- Cytoband
- 1q43
- HGVS
- NM_001035.3(RYR2):c.3380A>G (p.Glu1127Gly)
- Allele change
- Missense_E1127G
Associated conditions / phenotypes
Sudden cardiac death|Cardiomyopathy|Primary familial hypertrophic cardiomyopathy|Catecholaminergic polymorphic ventricular tachycardia|Arrhythmogenic right ventricular dysplasia 2|Catecholaminergic polymorphic ventricular tachycardia 1|Sudden unexplained death|Hypertrophic cardiomyopathy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.