Variant (rsID / SNP)
rs1800279
rs1800279 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DMD. Clinical significance in the table: Benign/Likely benign.
Reference-table entries
DMDBenign
- Clinical significance (as recorded)
- Benign/Likely benign
- Variant type
- single nucleotide variant
- Cytoband
- Xp21.2
- HGVS
- NM_004006.3(DMD):c.8762A>G (p.His2921Arg)
- Allele change
- Missense_H1580R
Associated conditions / phenotypes
Becker muscular dystrophy|Cardiovascular phenotype|Dilated cardiomyopathy 3B|Duchenne muscular dystrophy|Dystrophin deficiency|Duchenne muscular dystrophy|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.