Variant (rsID / SNP)
rs72468680
rs72468680 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DMD. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
DMDConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Cytoband
- Xp21.1
- HGVS
- NM_004006.3(DMD):c.2457A>C (p.Leu819=)
- Allele change
- Synonymous_L819L
Associated conditions / phenotypes
Duchenne muscular dystrophy|Dilated cardiomyopathy 3B|Becker muscular dystrophy|Duchenne muscular dystrophy|Cardiomyopathy|Dystrophin deficiency
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.