U462G variant of SELENON (Selenoprotein N)

Name: SELENON U462G variant | CATVariant
Creator: Center for Precision Medicine and Data Sciences
Published: 2026-08-22
License: https://catvariant.com/terms-of-use

U462G in SELENON (Selenoprotein N) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in CMYO3. The record also includes variant effect predictions and published literature.

U462G variant details

rs121908187
UniProt VAR 019640
Pathogenic
in CMYO3
Missense
SIFT 0.54
EBI: Pathogenic (in CMYO3)
UniProt: Pathogenic (in CMYO3)
Cited in: Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical… (PMID 12192640)
Cited in: Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome. (PMID 11528383)