Variant (rsID / SNP)
rs117180147
rs117180147 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RYR2. Location: chromosome 1, position 237,875,041. 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
- 1:237875041
- Cytoband
- 1q43
- HGVS
- NM_001035.3(RYR2):c.10231-4T>C
- Allele change
- Silent
Associated conditions / phenotypes
Catecholaminergic polymorphic ventricular tachycardia|Cardiovascular phenotype|Arrhythmogenic right ventricular dysplasia 2|Cardiomyopathy|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.