Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs727502997

DSP

rs727502997 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DSP. Location: chromosome 6, position 7,556,044. 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
6:7556044
Cytoband
6p24.3
HGVS
NM_004415.4(DSP):c.264C>T (p.Ile88=)
Allele change
Synonymous_I88I

Associated conditions / phenotypes

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

Public references

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