Variant (rsID / SNP)

rs876661345

rs876661345 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EMD. Clinical significance in the table: Pathogenic.

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Reference-table entries

EMDPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Duplication
Cytoband: Xq28
HGVS: NM_000117.3(EMD):c.153dup (p.Ser52fs)

Associated conditions / phenotypes

Cardiovascular phenotype|X-linked Emery-Dreifuss muscular dystrophy

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.