Variant (rsID / SNP)
rs730880024
rs730880024 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DSP. Location: chromosome 6, position 7,584,738. Clinical significance in the table: Pathogenic.
Reference-table entries
DSPPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- Deletion
- Chromosome / position
- 6:7584738
- Cytoband
- 6p24.3
- HGVS
- NM_004415.4(DSP):c.7248del (p.Phe2416fs)
Associated conditions / phenotypes
Lethal acantholytic epidermolysis bullosa
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.