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Variant (rsID / SNP)

rs144799937

DSC2

rs144799937 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DSC2. Location: chromosome 18, position 28,672,114. 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
18:28672114
Cytoband
18q12.1
HGVS
NM_024422.6(DSC2):c.304G>A (p.Glu102Lys)
Allele change
Missense_E102K

Associated conditions / phenotypes

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

Public references

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