Variant (rsID / SNP)
rs200092869
rs200092869 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RYR2. Location: chromosome 1, position 237,947,931. 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
- 1:237947931
- Cytoband
- 1q43
- HGVS
- NM_001035.3(RYR2):c.12919C>T (p.Arg4307Cys)
- Allele change
- Missense_R4307C
Associated conditions / phenotypes
Catecholaminergic polymorphic ventricular tachycardia|Cardiovascular phenotype|Cardiomyopathy|Catecholaminergic polymorphic ventricular tachycardia 1|Arrhythmogenic right ventricular dysplasia 2|Conduction disorder of the heart
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.