Variant (rsID / SNP)

rs398124050

rs398124050 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.7657C>T (p.Arg2553Ter)
Allele change: Nonsense_R1212X

Associated conditions / phenotypes

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

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.