Variant (rsID / SNP)
rs377715841
rs377715841 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DSP. Location: chromosome 6, position 7,583,008. 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
- 6:7583008
- Cytoband
- 6p24.3
- HGVS
- NM_004415.4(DSP):c.5513G>A (p.Arg1838His)
- Allele change
- Missense_R1395H
Associated conditions / phenotypes
Primary dilated cardiomyopathy|Arrhythmogenic right ventricular dysplasia 8|Lethal acantholytic epidermolysis bullosa|Skin fragility-woolly hair-palmoplantar keratoderma syndrome|Arrhythmogenic cardiomyopathy with woolly hair and keratoderma|Arrhythmogenic right ventricular dysplasia 8|Cardiomyopathy|Arrhythmogenic cardiomyopathy with woolly hair and keratoderma
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.