Variant (rsID / SNP)
rs200420897
rs200420897 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RYR2. Location: chromosome 1, position 237,821,259. 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
- 1:237821259
- Cytoband
- 1q43
- HGVS
- NM_001035.3(RYR2):c.8145G>T (p.Glu2715Asp)
- Allele change
- Missense_E2715D
Associated conditions / phenotypes
Primary dilated cardiomyopathy|Catecholaminergic polymorphic ventricular tachycardia|Cardiovascular phenotype|Cardiomyopathy|Arrhythmogenic right ventricular dysplasia 2|Catecholaminergic polymorphic ventricular tachycardia 1
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.