Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs794728075

DSC2

rs794728075 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DSC2. Location: chromosome 18, position 28,662,344. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

DSC2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
18:28662344
Cytoband
18q12.1
HGVS
NM_024422.6(DSC2):c.1123C>G (p.Arg375Gly)
Allele change
Missense_R375G

Associated conditions / phenotypes

Cardiomyopathy|Arrhythmogenic right ventricular dysplasia 11

Public references

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