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Variant (rsID / SNP)

rs121908188

SELENON

rs121908188 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SELENON. Location: chromosome 1, position 26,136,244. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

SELENONPathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
1:26136244
Cytoband
1p36.11
HGVS
NM_020451.3(SELENON):c.943G>A (p.Gly315Ser)
Allele change
Missense_G281S

Associated conditions / phenotypes

Eichsfeld type congenital muscular dystrophy|Congenital myopathy with fiber type disproportion|Congenital myopathy with fiber type disproportion|Eichsfeld type congenital muscular dystrophy|SEPN1-Related Disorders

Public references

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