Variant (rsID / SNP)
rs121913013
rs121913013 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DSG2. Location: chromosome 18, position 29,099,850. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
DSG2Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 18:29099850
- Cytoband
- 18q12.1
- HGVS
- NM_001943.5(DSG2):c.166G>A (p.Val56Met)
- Allele change
- Missense_V56M
Associated conditions / phenotypes
Arrhythmogenic right ventricular dysplasia 10|Dilated cardiomyopathy 1BB|Arrhythmogenic right ventricular cardiomyopathy|Catecholaminergic polymorphic ventricular tachycardia 1|Primary familial hypertrophic cardiomyopathy|Cardiovascular phenotype|Cardiomyopathy|Long QT syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.