Variant (rsID / SNP)
rs28763967
rs28763967 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DSP. Location: chromosome 6, position 7,581,032. Clinical significance in the table: Benign/Likely benign.
Reference-table entries
- Clinical significance (as recorded)
- Benign/Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 6:7581032
- Cytoband
- 6p24.3
- HGVS
- NM_004415.4(DSP):c.4609C>T (p.Arg1537Cys)
- Allele change
- Silent
Associated conditions / phenotypes
Lethal acantholytic epidermolysis bullosa|Arrhythmogenic right ventricular dysplasia 8|Skin fragility-woolly hair-palmoplantar keratoderma syndrome|Arrhythmogenic right ventricular cardiomyopathy|Sudden unexplained death|Cardiovascular phenotype|Cardiomyopathy|Arrhythmogenic right ventricular cardiomyopathy|Brugada syndrome|Arrhythmogenic cardiomyopathy with woolly hair and keratoderma|Arrhythmogenic right ventricular dysplasia 8
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.