Variant (rsID / SNP)
rs180863872
rs180863872 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DSC2. Location: chromosome 18, position 28,650,804. Clinical significance in the table: Uncertain significance.
Reference-table entries
DSC2Uncertain significance
- Clinical significance (as recorded)
- Uncertain significance
- Variant type
- single nucleotide variant
- Chromosome / position
- 18:28650804
- Cytoband
- 18q12.1
- HGVS
- NM_024422.6(DSC2):c.2138C>T (p.Thr713Met)
- Allele change
- Missense_T713M
Associated conditions / phenotypes
Cardiomyopathy|Arrhythmogenic right ventricular dysplasia 11
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.