Variant (rsID / SNP)

rs397514043

rs397514043 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DSC2. Location: chromosome 18, position 28,654,696. Clinical significance in the table: Pathogenic.

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Reference-table entries

DSC2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Deletion
Chromosome / position: 18:28654696
Cytoband: 18q12.1
HGVS: NM_024422.6(DSC2):c.1841del (p.Ser614fs)

Associated conditions / phenotypes

Arrhythmogenic right ventricular dysplasia, familial, 11, with mild palmoplantar keratoderma and woolly hair|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.