rs529354628

This variant is located in the LLGL1 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

not specified

About LLGL1

This gene encodes a protein that is similar to a tumor suppressor in Drosophila. The protein is part of a cytoskeletal network and is associated with nonmuscle myosin II heavy chain and a kinase that specifically phosphorylates this protein at serine residues. The gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008]

View all LLGL1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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