Variant (rsID / SNP)
rs397516956
rs397516956 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DSP. Location: chromosome 6, position 7,562,995. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
DSPPathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- Duplication
- Chromosome / position
- 6:7562995
- Cytoband
- 6p24.3
- HGVS
- NM_004415.4(DSP):c.712dup (p.Ile238fs)
Associated conditions / phenotypes
Primary dilated cardiomyopathy|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.