Variant (rsID / SNP)
rs751869107
rs751869107 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RYR2. Location: chromosome 1, position 237,670,039. Clinical significance in the table: Benign/Likely benign.
Reference-table entries
RYR2Benign
- Clinical significance (as recorded)
- Benign/Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:237670039
- Cytoband
- 1q43
- HGVS
- NM_001035.3(RYR2):c.2643A>C (p.Ile881=)
- Allele change
- Synonymous_I881I
Associated conditions / phenotypes
Arrhythmogenic right ventricular dysplasia 2|Catecholaminergic polymorphic ventricular tachycardia|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.
