Variant (rsID / SNP)

rs1064793983

rs1064793983 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DSG2. Location: chromosome 18, position 29,125,698. 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: 18:29125698
Cytoband: 18q12.1
HGVS: NM_001943.5(DSG2):c.2349C>A (p.Tyr783Ter)
Allele change: Nonsense_Y783X

Associated conditions / phenotypes

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.