Variant (rsID / SNP)
rs191143292
rs191143292 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DSG2. Location: chromosome 18, position 29,101,156. Clinical significance in the table: Benign/Likely benign.
Reference-table entries
DSG2Benign
- Clinical significance (as recorded)
- Benign/Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 18:29101156
- Cytoband
- 18q12.1
- HGVS
- NM_001943.5(DSG2):c.473T>G (p.Val158Gly)
- Allele change
- Missense_V158G
Associated conditions / phenotypes
Arrhythmogenic right ventricular cardiomyopathy|Arrhythmogenic right ventricular dysplasia 1|Cardiovascular phenotype|Cardiomyopathy|Primary dilated cardiomyopathy|Cardiomyopathy|Arrhythmogenic right ventricular dysplasia 10
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.