Variant (rsID / SNP)

rs373201722

rs373201722 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DSC2. Location: chromosome 18, position 28,667,673. Clinical significance in the table: Uncertain significance.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

DSC2Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 18:28667673
Cytoband: 18q12.1
HGVS: NM_024422.6(DSC2):c.734A>C (p.Glu245Ala)
Allele change: Missense_E245A

Associated conditions / phenotypes

Arrhythmogenic right ventricular dysplasia 11|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.