Gene entry
SELENON
selenoprotein N
- Chromosome
- 1
- Cytoband
- 1p36.11
- Variants (rsID)
- 18
SELENON is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 1 (region 1p36.11). Its official name is “selenoprotein N”. The reference table lists 18 variants (rsID) for this gene.
Clinically classified variants
17 reference-table entries with clinical significance.
- rs147131452Benignsingle nucleotide variantSEPN1-Related Disorders|Eichsfeld type congenital muscular dystrophy
- rs148071754Benignsingle nucleotide variantSEPN1-Related Disorders|Eichsfeld type congenital muscular dystrophy
- rs199742668Benignsingle nucleotide variantSEPN1-Related Disorders|Eichsfeld type congenital muscular dystrophy
- rs2294228Benignsingle nucleotide variantSEPN1-Related Disorders|Eichsfeld type congenital muscular dystrophy
- rs35019869Benignsingle nucleotide variantSEPN1-Related Disorders|Eichsfeld type congenital muscular dystrophy
- rs7349185Benignsingle nucleotide variantSEPN1-Related Disorders|Eichsfeld type congenital muscular dystrophy
- rs12121707Conflicting interpretationssingle nucleotide variantSEPN1-Related Disorders
- rs139020143Conflicting interpretationssingle nucleotide variantSEPN1-Related Disorders|Eichsfeld type congenital muscular dystrophy
- rs183272965Conflicting interpretationssingle nucleotide variantEichsfeld type congenital muscular dystrophy|Congenital myopathy with fiber type disproportion|Eichsfeld type congenital muscular dystrophy
- rs199911454Conflicting interpretationssingle nucleotide variantSEPN1-Related Disorders|Eichsfeld type congenital muscular dystrophy
- rs41284307Conflicting interpretationssingle nucleotide variantSEPN1-Related Disorders|Eichsfeld type congenital muscular dystrophy
- rs753774853Conflicting interpretationssingle nucleotide variantEichsfeld type congenital muscular dystrophy
- rs121908185Pathogenicsingle nucleotide variantEichsfeld type congenital muscular dystrophy|SEPN1-Related Disorders|Muscular dystrophy
- rs121908188Pathogenicsingle nucleotide variantEichsfeld type congenital muscular dystrophy|Congenital myopathy with fiber type disproportion|Congenital myopathy with fiber type disproportion|Eichsfeld type congenital muscular dystrophy|SEPN1-Related Disorders
- rs377215510Pathogenicsingle nucleotide variantEichsfeld type congenital muscular dystrophy|See cases
- rs200958015Uncertain significancesingle nucleotide variantSEPN1-Related Disorders|Eichsfeld type congenital muscular dystrophy
- rs201316362Uncertain significancesingle nucleotide variantEichsfeld type congenital muscular dystrophy
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.
