rs1253762546

This variant is located in the SGCZ gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

not specified

About SGCZ

The zeta-sarcoglycan gene measures over 465 kb and localizes to 8p22. This protein is part of the sarcoglycan complex, a group of 6 proteins. The sarcoglycans are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a carboxyl-terminal cluster with several conserved cysteine residues. The sarcoglycan complex is part of the dystrophin-associated glycoprotein complex (DGC), which bridges the inner cytoskeleton and the extra-cellular matrix. [provided by RefSeq, Jul 2008]

View all SGCZ variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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