Variant (rsID / SNP)

rs375679311

rs375679311 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DSG2. Location: chromosome 18, position 29,116,219. 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: 18:29116219
Cytoband: 18q12.1
HGVS: NM_001943.5(DSG2):c.1478A>G (p.Asn493Ser)
Allele change: Missense_N493S

Associated conditions / phenotypes

Arrhythmogenic right ventricular cardiomyopathy|Cardiovascular phenotype|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.