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Variant (rsID / SNP)

rs148185335

DSC2

rs148185335 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DSC2. Location: chromosome 18, position 28,654,750. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

DSC2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
18:28654750
Cytoband
18q12.1
HGVS
NM_024422.6(DSC2):c.1787C>T (p.Ala596Val)
Allele change
Missense_A596V

Associated conditions / phenotypes

Arrhythmogenic right ventricular cardiomyopathy|Cardiovascular phenotype|Cardiomyopathy|Arrhythmogenic right ventricular dysplasia 11

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.