Variant (rsID / SNP)
rs34239595
rs34239595 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DSP. Location: chromosome 6, position 7,571,692. Clinical significance in the table: Benign/Likely benign.
Reference-table entries
- Clinical significance (as recorded)
- Benign/Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 6:7571692
- Cytoband
- 6p24.3
- HGVS
- NM_004415.4(DSP):c.1778A>G (p.Asn593Ser)
- Allele change
- Missense_N593S
Associated conditions / phenotypes
Primary familial hypertrophic cardiomyopathy|Cardiovascular phenotype|Arrhythmogenic right ventricular cardiomyopathy|Lethal acantholytic epidermolysis bullosa|Skin fragility-woolly hair-palmoplantar keratoderma syndrome|Cardiomyopathy|Arrhythmogenic right ventricular dysplasia 8|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.