Variant (rsID / SNP)
rs398123981
rs398123981 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
- single nucleotide variant
- Cytoband
- Xp21.1
- HGVS
- NM_004006.3(DMD):c.5287C>T (p.Arg1763Ter)
- Allele change
- Nonsense_R422X
Associated conditions / phenotypes
Duchenne muscular dystrophy|Dilated cardiomyopathy 3B|Duchenne muscular dystrophy|Dystrophin deficiency|Becker muscular dystrophy|Cardiomyopathy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.