Variant (rsID / SNP)
rs121913006
rs121913006 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DSG2. Location: chromosome 18, position 29,099,830. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
DSG2Pathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 18:29099830
- Cytoband
- 18q12.1
- HGVS
- NM_001943.5(DSG2):c.146G>A (p.Arg49His)
- Allele change
- Missense_R49H
Associated conditions / phenotypes
Arrhythmogenic right ventricular dysplasia 10|Arrhythmogenic right ventricular cardiomyopathy|Arrhythmogenic right ventricular dysplasia 9
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.