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Variant (rsID / SNP)

rs1800281

DMD

rs1800281 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DMD. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

DMDBenign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Cytoband
Xp21.2
HGVS
NM_004006.3(DMD):c.10789C>T (p.Leu3597_Glu3598=)
Allele change
Synonymous_L529L

Associated conditions / phenotypes

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

Public references

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