Variant (rsID / SNP)
rs200642525
rs200642525 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RYR2. Location: chromosome 1, position 237,550,653. 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
- 1:237550653
- Cytoband
- 1q43
- HGVS
- NM_001035.3(RYR2):c.649A>G (p.Ile217Val)
- Allele change
- Missense_I217V
Associated conditions / phenotypes
Catecholaminergic polymorphic ventricular tachycardia|Arrhythmogenic right ventricular dysplasia 2|Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 1|Cardiomyopathy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.