Variant (rsID / SNP)

rs398123959

rs398123959 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DMD. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

DMDLikely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: Deletion
Cytoband: Xp21.1
HGVS: NM_004006.3(DMD):c.4500del (p.Gln1501fs)

Associated conditions / phenotypes

Qualitative or quantitative defects of dystrophin

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.