Variant (rsID / SNP)
rs794728146
rs794728146 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DSP. Location: chromosome 6, position 7,583,764. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
DSPPathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- Deletion
- Chromosome / position
- 6:7583764
- Cytoband
- 6p24.3
- HGVS
- NM_004415.4(DSP):c.6273del (p.Ala2092fs)
Associated conditions / phenotypes
Arrhythmogenic right ventricular cardiomyopathy|Arrhythmogenic cardiomyopathy with woolly hair and keratoderma|Arrhythmogenic right ventricular dysplasia 8|Arrhythmogenic right ventricular dysplasia 8|Cardiac arrhythmia
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.