Variant (rsID / SNP)
rs2076300
rs2076300 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DSP. Location: chromosome 6, position 7,584,617. Clinical significance in the table: Benign.
Reference-table entries
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 6:7584617
- Cytoband
- 6p24.3
- HGVS
- NM_004415.4(DSP):c.7122C>T (p.Thr2374=)
- Allele change
- Synonymous_T1931T
Associated conditions / phenotypes
Lethal acantholytic epidermolysis bullosa|Arrhythmogenic right ventricular dysplasia 8|Skin fragility-woolly hair-palmoplantar keratoderma syndrome|Cardiovascular phenotype|Cardiomyopathy|Arrhythmogenic right ventricular dysplasia 8|Arrhythmogenic cardiomyopathy with woolly hair and keratoderma|Arrhythmogenic cardiomyopathy with woolly hair and keratoderma|Keratosis palmoplantaris striata 2|Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.