Variant (rsID / SNP)
rs794728083
rs794728083 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DSG2. Location: chromosome 18, position 29,104,489. Clinical significance in the table: Pathogenic.
Reference-table entries
DSG2Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 18:29104489
- Cytoband
- 18q12.1
- HGVS
- NM_001943.5(DSG2):c.769C>T (p.Gln257Ter)
- Allele change
- Nonsense_Q257X
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.