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Variant (rsID / SNP)

rs112516305

DMD

rs112516305 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.7521C>T (p.Asn2507=)
Allele change
Synonymous_N1166N

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.