Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs886039178

DSP

rs886039178 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DSP. Location: chromosome 6, position 7,579,618. Clinical significance in the table: Pathogenic.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

DSPPathogenic
Clinical significance (as recorded)
Pathogenic
Variant type
single nucleotide variant
Chromosome / position
6:7579618
Cytoband
6p24.3
HGVS
NM_004415.4(DSP):c.3195C>G (p.Tyr1065Ter)
Allele change
Nonsense_Y1065X

Associated conditions / phenotypes

Cardiovascular phenotype|Arrhythmogenic cardiomyopathy with woolly hair and keratoderma|Arrhythmogenic right ventricular dysplasia 8|Familial isolated arrhythmogenic right ventricular dysplasia

Public references

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