Variant (rsID / SNP)

rs373428963

rs373428963 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DMD. Clinical significance in the table: Uncertain significance.

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Reference-table entries

DMDUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Cytoband: Xp21.1
HGVS: NM_004006.3(DMD):c.5255T>C (p.Leu1752Ser)
Allele change: Missense_L411S

Associated conditions / phenotypes

Duchenne muscular dystrophy|Dilated cardiomyopathy 3B|Dystrophin deficiency

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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