Variant (rsID / SNP)
rs397516915
rs397516915 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DSP. Location: chromosome 6, position 7,568,676. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
DSPPathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 6:7568676
- Cytoband
- 6p24.3
- HGVS
- NM_004415.4(DSP):c.1273C>T (p.Arg425Ter)
- Allele change
- Nonsense_R425X
Associated conditions / phenotypes
Arrhythmogenic right ventricular cardiomyopathy|Cardiomyopathy|DSP-related arrhythmogenic cardiomyopathy|Arrhythmogenic right ventricular dysplasia 8|Arrhythmogenic cardiomyopathy with woolly hair and keratoderma
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.