Variant (rsID / SNP)

rs121913011

rs121913011 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DSG2. Location: chromosome 18, position 29,104,517. Clinical significance in the table: Pathogenic.

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Reference-table entries

DSG2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 18:29104517
Cytoband: 18q12.1
HGVS: NM_001943.5(DSG2):c.797A>G (p.Asn266Ser)
Allele change: Missense_N266S

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.