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Variant (rsID / SNP)

rs551034751

DSG2

rs551034751 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DSG2. Location: chromosome 18, position 29,116,384. 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
single nucleotide variant
Chromosome / position
18:29116384
Cytoband
18q12.1
HGVS
NM_001943.5(DSG2):c.1643G>A (p.Arg548His)
Allele change
Missense_R548H

Associated conditions / phenotypes

Arrhythmogenic right ventricular cardiomyopathy|Cardiovascular phenotype|Arrhythmogenic right ventricular dysplasia 10|Cardiomyopathy

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.