Variant (rsID / SNP)
rs1893963
rs1893963 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DSC2. Location: chromosome 18, position 28,649,042. Clinical significance in the table: Benign.
Reference-table entries
DSC2Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 18:28649042
- Cytoband
- 18q12.1
- HGVS
- NM_024422.6(DSC2):c.2326A>G (p.Ile776Val)
- Allele change
- Missense_I776V
Associated conditions / phenotypes
Cardiovascular phenotype|Arrhythmogenic right ventricular dysplasia 11|Cardiomyopathy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.