LLGL1

LLGL scribble cell polarity complex component 1

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. [provided by RefSeq, Jul 2008]

Known Variants80 total

rsidPosition (GRCh37)AllelesClassClinVar
rs214251945617:18,129,041C/Tlikely benign
rs89630470617:18,129,076A/Guncertain significance
rs7565783917:18,129,887C/Gintron variant
rs11596727717:18,133,277A/Gbenign
rs37639855717:18,133,288G/Auncertain significance
rs14170501517:18,133,304C/Tuncertain significance
rs94019073417:18,135,885G/Auncertain significance
rs123112908917:18,136,037G/Tuncertain significance
rs11394389617:18,136,099C/Tbenign
rs14962787717:18,137,097C/Tuncertain significance
rs14436142717:18,137,122G/Abenign
rs159786544517:18,137,204A/Guncertain significance
rs204762688817:18,137,234G/Tuncertain significance
rs75261346117:18,137,240G/Cuncertain significance
rs75596616317:18,137,247G/Auncertain significance
rs11539990617:18,137,328G/Abenign
rs75699150417:18,137,337G/Auncertain significance
rs204763457917:18,137,461G/Auncertain significance
rs144418886317:18,137,470A/Glikely benign
rs254542167617:18,137,624C/Guncertain significance
rs57206785317:18,137,690C/Guncertain significance
rs91435998617:18,138,001C/Tuncertain significance
rs7875098117:18,138,145G/Abenign
rs78093015217:18,138,197A/Guncertain significance
rs123679392017:18,138,206G/Auncertain significance
rs14429084117:18,138,525A/Guncertain significance
rs806695917:18,138,557C/Tlikely benign
rs15101661117:18,138,596G/Cuncertain significance
rs52935462817:18,139,937G/Auncertain significance
rs14902723917:18,139,980A/Guncertain significance
rs106368217:18,140,024G/Auncertain significance
rs138919069617:18,140,189G/Cuncertain significance
rs20018347217:18,140,204C/Tuncertain significance
rs14637886717:18,140,221G/Auncertain significance
rs37378090917:18,140,847C/Tuncertain significance
rs76373828917:18,140,870C/Tuncertain significance
rs37751220517:18,140,871G/Auncertain significance
rs37719834717:18,140,912C/Tuncertain significance
rs15063597017:18,140,989C/Tbenign
rs13975075117:18,140,990G/Auncertain significance
rs254544471717:18,141,038C/Guncertain significance
rs14465515917:18,141,066G/Auncertain significance
rs14061123117:18,141,081T/Cuncertain significance
rs77032365117:18,141,422C/Tuncertain significance
rs77020865417:18,141,473G/Auncertain significance
rs53182891417:18,141,479G/Auncertain significance
rs37466336817:18,141,488G/Auncertain significance
rs11183624717:18,141,807G/Abenign
rs15096327017:18,141,814C/Guncertain significance
rs37457602517:18,141,818G/Auncertain significance
rs74729362217:18,141,824A/Glikely benign
rs15008881717:18,141,876C/Tuncertain significance
rs77313665117:18,141,897A/Guncertain significance
rs3506233417:18,143,440G/Adownstream gene variant
rs76838560617:18,144,003C/Tuncertain significance
rs11269737017:18,144,013C/Tbenign
rs20004491517:18,144,014G/Cuncertain significance
rs37125335417:18,144,068G/Tuncertain significance
rs5795622117:18,144,097C/Gbenign
rs57512149517:18,144,126C/Tuncertain significance
rs77715556017:18,144,168C/Tuncertain significance
rs7697308917:18,144,172T/Cbenign
rs260513817:18,144,683T/Cregulatory region variant
rs75798363317:18,144,820A/Cuncertain significance
rs13973630617:18,144,834C/Tuncertain significance
rs20151409317:18,144,843G/Auncertain significance
rs14993518417:18,144,853C/Auncertain significance
rs20026111517:18,144,961A/Guncertain significance
rs37472895917:18,144,976G/Auncertain significance
rs78143399717:18,145,008G/Auncertain significance
rs14521330017:18,145,295G/Auncertain significance
rs254546830417:18,145,497C/Tuncertain significance
rs78096031917:18,145,520G/Auncertain significance
rs36819742117:18,145,529A/Glikely benign
rs76208047517:18,145,542C/Tuncertain significance
rs14938751617:18,145,552C/Auncertain significance
rs77449029917:18,145,866G/Auncertain significance
rs76404958317:18,145,908G/Auncertain significance
rs37475808817:18,145,911G/Auncertain significance
rs2852397817:18,147,239C/Tdownstream gene variant

Gene information from NCBI Gene. Variant classifications from ClinVar.