rs374923265

This variant is located in the SGCB gene.

▶

ClinVar annotation

Uncertain Significance★★★☆
4 submitters3 publications

not provided; Autosomal recessive limb-girdle muscular dystrophy type 2E

View on ClinVar →

About SGCB

This gene encodes a member of the sarcoglycan family. Sarcoglycans are transmembrane components in the dystrophin-glycoprotein complex which help stabilize the muscle fiber membranes and link the muscle cytoskeleton to the extracellular matrix. Mutations in this gene have been associated with limb-girdle muscular dystrophy.[provided by RefSeq, Oct 2008]

View all SGCB variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…