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Variant (rsID / SNP)

rs754765424

DMD

rs754765424 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.5485C>G (p.Gln1829Glu)
Allele change
Missense_Q488E

Associated conditions / phenotypes

Cardiovascular phenotype|Long QT syndrome|Duchenne muscular dystrophy|Dilated cardiomyopathy 3B|Becker muscular dystrophy|Dystrophin deficiency|Cardiomyopathy|Duchenne muscular dystrophy

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.