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Variant (rsID / SNP)

rs116283249

DMD

rs116283249 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
Xp21.2
HGVS
NM_004006.3(DMD):c.8767G>T (p.Ala2923Ser)
Allele change
Missense_A1582S

Associated conditions / phenotypes

Cardiovascular phenotype|Duchenne muscular dystrophy|Dilated cardiomyopathy 3B|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.