Variant (rsID / SNP)

rs398123853

rs398123853 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DMD. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

DMDPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Cytoband: Xp21.1
HGVS: NM_004006.3(DMD):c.1286C>A (p.Ser429Ter)
Allele change: Nonsense_S429X

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.