Variant (rsID / SNP)
rs794728140
rs794728140 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DSP. Location: chromosome 6, position 7,579,842. Clinical significance in the table: Pathogenic.
Reference-table entries
DSPPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- Deletion
- Chromosome / position
- 6:7579842
- Cytoband
- 6p24.3
- HGVS
- NM_004415.4(DSP):c.3419del (p.Asp1140fs)
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.