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Variant (rsID / SNP)

rs185706283

DMD

rs185706283 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
Xp21.1
HGVS
NM_004006.3(DMD):c.7151C>A (p.Ser2384Tyr)
Allele change
Missense_S1043Y

Associated conditions / phenotypes

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

Public references

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