Variant (rsID / SNP)

rs397516712

rs397516712 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DSG2. Location: chromosome 18, position 29,104,778. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

DSG2Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 18:29104778
Cytoband: 18q12.1
HGVS: NM_001943.5(DSG2):c.941C>A (p.Ser314Ter)
Allele change: Nonsense_S314X

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.