Variant (rsID / SNP)

rs121913008

rs121913008 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DSG2. Location: chromosome 18, position 29,099,821. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

DSG2Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 18:29099821
Cytoband: 18q12.1
HGVS: NM_001943.5(DSG2):c.137G>A (p.Arg46Gln)
Allele change: Missense_R46Q

Associated conditions / phenotypes

Arrhythmogenic right ventricular dysplasia 10|Arrhythmogenic right ventricular cardiomyopathy|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.