Variant (rsID / SNP)

rs200804638

rs200804638 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DSG2. Location: chromosome 18, position 29,121,161. Clinical significance in the table: Uncertain significance.

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Reference-table entries

DSG2Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 18:29121161
Cytoband: 18q12.1
HGVS: NM_001943.5(DSG2):c.1885C>T (p.Pro629Ser)
Allele change: Missense_P629S

Associated conditions / phenotypes

Arrhythmogenic right ventricular dysplasia 10|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.