Gene symbol and protein
Gene Location
All allelic disease phenotypes - locus/disease symbols
SEPN1
Selenoprotein N1

1p36.13
* myopathy, congenital, with fiber-type disproportion - CFTD (2.14, 3.10, 3.21, 5.3)
* Multiminicore disease, classical form - (2.14, 3.10, 3.21, 5.3)
* Rigid spine syndrome - RSS (2.14, 3.10, 3.21, 5.3)
* Desmin-related myopathy with Mallory bodies - RSMD1 (2.14, 3.10, 3.21, 5.3)
* Muscular dystrophy, rigid spine, 1 - MDRS1 (2.14, 3.10, 3.21, 5.3)

Gene symbol and protein	Gene Location	All allelic disease phenotypes - locus/disease symbols
SEPN1 Selenoprotein N1	1p36.13	* myopathy, congenital, with fiber-type disproportion - CFTD (2.14, 3.10, 3.21, 5.3) * Multiminicore disease, classical form - (2.14, 3.10, 3.21, 5.3) * Rigid spine syndrome - RSS (2.14, 3.10, 3.21, 5.3) * Desmin-related myopathy with Mallory bodies - RSMD1 (2.14, 3.10, 3.21, 5.3) * Muscular dystrophy, rigid spine, 1 - MDRS1 (2.14, 3.10, 3.21, 5.3)