Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs193922708

DSC2

rs193922708 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DSC2. Location: chromosome 18, position 28,666,646. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

DSC2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
18:28666646
Cytoband
18q12.1
HGVS
NM_024422.6(DSC2):c.835C>T (p.Arg279Cys)
Allele change
Missense_R279C

Associated conditions / phenotypes

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.