Variant (rsID / SNP)

rs398123973

rs398123973 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DMD. Clinical significance in the table: Pathogenic.

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Reference-table entries

DMDPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Cytoband: Xp21.1
HGVS: NM_004006.3(DMD):c.4996C>T (p.Arg1666Ter)
Allele change: Nonsense_R325X

Associated conditions / phenotypes

Duchenne muscular dystrophy|Cardiomyopathy|Duchenne muscular dystrophy|Dystrophin deficiency|Becker 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.