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Variant (rsID / SNP)

rs147742157

DSC2

rs147742157 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DSC2. Location: chromosome 18, position 28,651,782. 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
18:28651782
Cytoband
18q12.1
HGVS
NM_024422.6(DSC2):c.1914G>C (p.Gln638His)
Allele change
Missense_Q638H

Associated conditions / phenotypes

Cardiomyopathy|Hypertrophic 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.