Variant (rsID / SNP)
rs148135406
rs148135406 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.5933G>T (p.Arg1978Leu)
- Allele change
- Missense_R637H
Associated conditions / phenotypes
Dilated cardiomyopathy 3B|Duchenne muscular dystrophy|Cardiomyopathy|Becker muscular dystrophy|Dystrophin deficiency|Duchenne muscular dystrophy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.