Variant (rsID / SNP)

rs794728073

rs794728073 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DSC2. Location: chromosome 18, position 28,648,881. Clinical significance in the table: Likely pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

DSC2Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: Deletion
Chromosome / position: 18:28648881
Cytoband: 18q12.1
HGVS: NM_024422.6(DSC2):c.2487del (p.Phe829fs)

Associated conditions / phenotypes

Arrhythmogenic right ventricular dysplasia 11

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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