Variant (rsID / SNP)
rs151024019
rs151024019 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DSC2. Location: chromosome 18, position 28,650,748. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
DSC2Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 18:28650748
- Cytoband
- 18q12.1
- HGVS
- NM_024422.6(DSC2):c.2194T>G (p.Leu732Val)
- Allele change
- Missense_L732V
Associated conditions / phenotypes
Arrhythmogenic right ventricular cardiomyopathy|Familial isolated arrhythmogenic right ventricular dysplasia|Primary familial hypertrophic 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.