Variant (rsID / SNP)
rs200473206
rs200473206 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DSP. Location: chromosome 6, position 7,556,058. Clinical significance in the table: Uncertain significance.
Reference-table entries
- Clinical significance (as recorded)
- Uncertain significance
- Variant type
- single nucleotide variant
- Chromosome / position
- 6:7556058
- Cytoband
- 6p24.3
- HGVS
- NM_004415.4(DSP):c.273+5G>A
- Allele change
- Silent
Associated conditions / phenotypes
Primary dilated cardiomyopathy|Long QT syndrome|Primary dilated cardiomyopathy|Arrhythmogenic cardiomyopathy with woolly hair and keratoderma|Arrhythmogenic right ventricular dysplasia 8|Arrhythmogenic right ventricular cardiomyopathy|Cardiomyopathy|Arrhythmogenic right ventricular dysplasia 8|Lethal acantholytic epidermolysis bullosa|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.