Variant (rsID / SNP)
rs1791235
rs1791235 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DSG2. Location: chromosome 18, position 29,126,670. Clinical significance in the table: Benign.
Reference-table entries
DSG2Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 18:29126670
- Cytoband
- 18q12.1
- HGVS
- NM_001943.5(DSG2):c.3321T>C (p.Val1107=)
- Allele change
- Synonymous_V1107V
Associated conditions / phenotypes
Cardiovascular phenotype|Arrhythmogenic right ventricular dysplasia 10|Cardiomyopathy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.