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Variant (rsID / SNP)

rs375527314

DSG2

rs375527314 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DSG2. Location: chromosome 18, position 29,118,909. 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
18:29118909
Cytoband
18q12.1
HGVS
NM_001943.5(DSG2):c.1847C>T (p.Ala616Val)
Allele change
Missense_A616V

Associated conditions / phenotypes

Cardiovascular phenotype|Cardiomyopathy|Arrhythmogenic right ventricular dysplasia 10

Public references

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