Variant (rsID / SNP)

rs397517395

rs397517395 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DSC2. Location: chromosome 18, position 28,651,758. Clinical significance in the table: Uncertain significance.

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Reference-table entries

DSC2Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 18:28651758
Cytoband: 18q12.1
HGVS: NM_024422.6(DSC2):c.1938T>G (p.Tyr646Ter)
Allele change: Nonsense_Y646X

Associated conditions / phenotypes

Cardiomyopathy|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.