Variant (rsID / SNP)

rs200395484

rs200395484 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DSG2. Location: chromosome 18, position 29,121,190. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

DSG2Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 18:29121190
Cytoband: 18q12.1
HGVS: NM_001943.5(DSG2):c.1914A>G (p.Gly638=)
Allele change: Synonymous_G638G

Associated conditions / phenotypes

Arrhythmogenic right ventricular dysplasia 10|Cardiovascular phenotype|Cardiomyopathy

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.