Variant (rsID / SNP)
rs144329742
rs144329742 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
- Xp21.1
- HGVS
- NM_004006.3(DMD):c.4125T>C (p.Thr1375=)
- Allele change
- Synonymous_T34T
Associated conditions / phenotypes
Cardiovascular phenotype|Duchenne muscular dystrophy|Becker muscular dystrophy|Dystrophin deficiency|Duchenne muscular dystrophy|Cardiomyopathy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.