Variant (rsID / SNP)

rs397517393

rs397517393 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DSC2. Location: chromosome 18, position 28,673,521. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

DSC2Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 18:28673521
Cytoband: 18q12.1
HGVS: NM_024422.6(DSC2):c.154+1G>A
Allele change: Silent

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.