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Variant (rsID / SNP)

rs121913007

DSG2

rs121913007 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DSG2. Location: chromosome 18, position 29,104,755. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

DSG2Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
18:29104755
Cytoband
18q12.1
HGVS
NM_001943.5(DSG2):c.918G>A (p.Trp306Ter)
Allele change
Nonsense_W306X

Associated conditions / phenotypes

Arrhythmogenic right ventricular dysplasia 10

Public references

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