Variant (rsID / SNP)
rs1016835
rs1016835 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DSP. Location: chromosome 6, position 7,576,527. Clinical significance in the table: Benign.
Reference-table entries
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 6:7576527
- Cytoband
- 6p24.3
- HGVS
- NM_004415.4(DSP):c.2631G>A (p.Arg877=)
- Allele change
- Synonymous_R877R
Associated conditions / phenotypes
Cardiovascular phenotype|Skin fragility-woolly hair-palmoplantar keratoderma syndrome|Lethal acantholytic epidermolysis bullosa|Arrhythmogenic right ventricular dysplasia 8|Cardiomyopathy|Arrhythmogenic right ventricular dysplasia 8|Arrhythmogenic cardiomyopathy with woolly hair and keratoderma|Arrhythmogenic cardiomyopathy with woolly hair and keratoderma|Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis|Keratosis palmoplantaris striata 2
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.