Variant (rsID / SNP)

rs869025388

rs869025388 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DSG2. Location: chromosome 18, position 29,104,512. Clinical significance in the table: Likely pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

DSG2Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 18:29104512
Cytoband: 18q12.1
HGVS: NM_001943.5(DSG2):c.792T>A (p.Asp264Glu)
Allele change: Missense_D264E

Associated conditions / phenotypes

Arrhythmogenic right ventricular cardiomyopathy

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.