Variant (rsID / SNP)

rs139983160

rs139983160 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EMD. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

EMDConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Cytoband: Xq28
HGVS: NM_000117.3(EMD):c.428C>T (p.Ser143Phe)
Allele change: Missense_S143F

Associated conditions / phenotypes

Cardiomyopathy|X-linked Emery-Dreifuss muscular dystrophy|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.