Variant (rsID / SNP)

rs730880347

rs730880347 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DSG2. Location: chromosome 18, position 29,116,227. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

DSG2Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: Duplication
Chromosome / position: 18:29116227
Cytoband: 18q12.1
HGVS: NM_001943.5(DSG2):c.1487dup (p.Cys496fs)

Associated conditions / phenotypes

Arrhythmogenic right ventricular dysplasia 10

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.