Variant (rsID / SNP)

rs189143447

rs189143447 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DMD. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

DMDConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Cytoband: Xp21.1
HGVS: NM_004006.3(DMD):c.1318G>A (p.Glu440Lys)
Allele change: Missense_E440K

Associated conditions / phenotypes

Becker muscular dystrophy|Duchenne muscular dystrophy|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.