Variant (rsID / SNP)
rs201500134
rs201500134 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RYR2. Location: chromosome 1, position 237,821,276. 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
- 1:237821276
- Cytoband
- 1q43
- HGVS
- NM_001035.3(RYR2):c.8162T>C (p.Ile2721Thr)
- Allele change
- Missense_I2721T
Associated conditions / phenotypes
Arrhythmogenic right ventricular cardiomyopathy|Cardiovascular phenotype|Wolff-Parkinson-White pattern|Cardiomyopathy|Catecholaminergic polymorphic ventricular tachycardia|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.