Leucine-Rich Gene, Glioma-Inactivated, 3

Alternative Names

LGI3

Length

9,977 bases

No. of Exons

No. of isoforms

Protein Name

Leucine-rich repeat LGI family member 3

Molecular Mass

61704 Da

Amino Acid Count

548

Genomic Location

chr8:22,146,830-22,156,806

Gene Map Locus

8p21.3

Description

Predicted to enable catalytic activity. Predicted to be involved in regulation of exocytosis. Predicted to be located in extracellular region. Predicted to be active in synaptic vesicle. [From Alliance of Genome Resources]

Epidemiology in the Arab World

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Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_139278.4:c.1117del	Saudi Arabia	NC_000008.11:g.22148690del	Pathogenic	Pathogenic	Intellectual Developmental Disorder with Muscle Tone Abnormalities and Distal Skeletal Defects	NM_139278.4:c.1117del; NP_644807.1:p.Trp373GlyfsTer18	2131791254	1699929
NM_139278.4:c.422T>A	Iraq	NC_000008.11:g.22154142A>T	Pathogenic	Likely Pathogenic	Intellectual Developmental Disorder with Muscle Tone Abnormalities and Distal Skeletal Defects	NM_139278.4:c.422T>A; NP_644807.1:p.Leu141His	2131796689	1699930
NM_139278.4:c.494+1G>C	Jordan	NC_000008.11:g.22153967C>G	Pathogenic	Pathogenic	Intellectual Developmental Disorder with Muscle Tone Abnormalities and Distal Skeletal Defects	NM_139278.4:c.494+1G>C; NP_644807.1:p.?	1827450545	1699926
NM_139278.4:c.991G>A	Jordan	NC_000008.11:g.22148816C>T	Pathogenic	Pathogenic	Intellectual Developmental Disorder with Muscle Tone Abnormalities and Distal Skeletal Defects	NM_139278.4:c.991G>A; NP_644807.1:p.Asp331Asn	1050199719	1699928

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External Links

https://www.genecards.org/cgi-bin/carddisp.pl?gene=LGI3

Contributors

Asha Deepthi: 16.03.2023

Edit History

Asha Deepthi: 16.03.2023

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