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Variant (rsID / SNP)

rs139399951

DSC2

rs139399951 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DSC2. Location: chromosome 18, position 28,662,896. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

DSC2Benign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
18:28662896
Cytoband
18q12.1
HGVS
NM_024422.6(DSC2):c.1073C>T (p.Thr358Ile)
Allele change
Missense_T358I

Associated conditions / phenotypes

Cardiac arrest|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.