Variant (rsID / SNP)

rs758527425

rs758527425 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DSC2. Location: chromosome 18, position 28,669,424. Clinical significance in the table: Uncertain significance.

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Reference-table entries

DSC2Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 18:28669424
Cytoband: 18q12.1
HGVS: NM_024422.6(DSC2):c.608G>A (p.Arg203His)
Allele change: Missense_R203H

Associated conditions / phenotypes

Cardiomyopathy|Arrhythmogenic right ventricular dysplasia 11

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.