Variant (rsID / SNP)
rs863225007
rs863225007 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DMD. Clinical significance in the table: Pathogenic.
Reference-table entries
DMDPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- Duplication
- Cytoband
- Xp21.1
- HGVS
- NM_004006.3(DMD):c.6611dup (p.Arg2205fs)
Associated conditions / phenotypes
Duchenne muscular dystrophy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.