Variant (rsID / SNP)

rs128626231

rs128626231 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DMD. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

DMDPathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Cytoband: Xp21.1
HGVS: NM_004006.3(DMD):c.161T>G (p.Leu54Arg)
Allele change: Missense_L54R

Associated conditions / phenotypes

Duchenne muscular dystrophy

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.