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LLGL1

Synonyms
DLG4, HUGL, HUGL-1, HUGL1, LLGL, Lgl1, Mgl1
External resources
Summary
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.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
22,093
Likely benign
1,523
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on LLGL1 gene.

Phenotype class
Patients in 3billion (%)

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