Variant (rsID / SNP)
rs147000526
rs147000526 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DSP. Location: chromosome 6, position 7,584,376. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 6:7584376
- Cytoband
- 6p24.3
- HGVS
- NM_004415.4(DSP):c.6881C>G (p.Ala2294Gly)
- Allele change
- Missense_A1851G
Associated conditions / phenotypes
Arrhythmogenic right ventricular cardiomyopathy|Skin fragility-woolly hair-palmoplantar keratoderma syndrome|Lethal acantholytic epidermolysis bullosa|Cardiovascular phenotype|Cardiomyopathy|Arrhythmogenic cardiomyopathy with woolly hair and keratoderma|Arrhythmogenic right ventricular dysplasia 8|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.