Variant (rsID / SNP)

rs863225003

rs863225003 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: Deletion
Cytoband: Xp21.1
HGVS: NM_004006.3(DMD):c.5602_5605del (p.Arg1868fs)

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.