Variant (rsID / SNP)
rs138329459
rs138329459 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DSP. Location: chromosome 6, position 7,585,950. 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
- 6:7585950
- Cytoband
- 6p24.3
- HGVS
- NM_004415.4(DSP):c.8455A>C (p.Met2819Leu)
- Allele change
- Missense_M2376L
Associated conditions / phenotypes
Arrhythmogenic right ventricular cardiomyopathy|Lethal acantholytic epidermolysis bullosa|Skin fragility-woolly hair-palmoplantar keratoderma syndrome|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.