Variant (rsID / SNP)
rs34738426
rs34738426 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DSP. Location: chromosome 6, position 7,581,747. Clinical significance in the table: Uncertain significance.
Reference-table entries
DSPUncertain significance
- Clinical significance (as recorded)
- Uncertain significance
- Variant type
- single nucleotide variant
- Chromosome / position
- 6:7581747
- Cytoband
- 6p24.3
- HGVS
- NM_004415.4(DSP):c.5324G>T (p.Arg1775Ile)
- Allele change
- Silent
Associated conditions / phenotypes
Arrhythmogenic right ventricular cardiomyopathy|Arrhythmogenic cardiomyopathy with woolly hair and keratoderma|Arrhythmogenic right ventricular dysplasia 8|Arrhythmogenic right ventricular dysplasia 8|6 conditions|Cardiomyopathy|Skin fragility-woolly hair-palmoplantar keratoderma syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.