Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs200476515

DSP

rs200476515 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DSP. Location: chromosome 6, position 7,566,613. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

DSPConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
6:7566613
Cytoband
6p24.3
HGVS
NM_004415.4(DSP):c.943C>T (p.Arg315Cys)
Allele change
Missense_R315C

Associated conditions / phenotypes

Arrhythmogenic right ventricular dysplasia 8|Arrhythmogenic cardiomyopathy with woolly hair and keratoderma|Lethal acantholytic epidermolysis bullosa|Arrhythmogenic right ventricular dysplasia 8|Skin fragility-woolly hair-palmoplantar keratoderma syndrome|Cardiovascular phenotype|Cardiomyopathy

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.