Variant (rsID / SNP)
rs187926894
rs187926894 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DMD. Clinical significance in the table: Likely benign.
Reference-table entries
DMDLikely benign
- Clinical significance (as recorded)
- Likely benign
- Variant type
- single nucleotide variant
- Cytoband
- Xp21.1
- HGVS
- NM_004006.3(DMD):c.2575A>T (p.Thr859Ser)
- Allele change
- Missense_T859S
Associated conditions / phenotypes
Cardiovascular phenotype|Duchenne muscular dystrophy|Dystrophin deficiency|Cardiomyopathy|Becker muscular dystrophy|Duchenne muscular dystrophy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.