Variant (rsID / SNP)
rs200830807
rs200830807 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DSG2. Location: chromosome 18, position 29,126,389. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
DSG2Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 18:29126389
- Cytoband
- 18q12.1
- HGVS
- NM_001943.5(DSG2):c.3040G>A (p.Val1014Ile)
- Allele change
- Missense_V1014I
Associated conditions / phenotypes
Primary dilated cardiomyopathy|Cardiovascular phenotype|Arrhythmogenic right ventricular dysplasia 10|Cardiomyopathy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.