Variant (rsID / SNP)
rs373542380
rs373542380 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DSG2. Location: chromosome 18, position 29,101,074. 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
- 18:29101074
- Cytoband
- 18q12.1
- HGVS
- NM_001943.5(DSG2):c.391G>A (p.Ala131Thr)
- Allele change
- Missense_A131T
Associated conditions / phenotypes
Arrhythmogenic right ventricular dysplasia 10|Arrhythmogenic right ventricular cardiomyopathy|Cardiomyopathy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.