AutismKB 2.0

Variant Details for GOLGA3


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Basic Information Top
Gene Symbol:GOLGA3 ( GCP170,MEA-2 )
Gene Full Name: golgin A3
Band: 12q24.33
Quick LinksEntrez ID:2802; OMIM: 602581; Uniprot ID:GOGA3_HUMAN; ENSEMBL ID: ENSG00000090615; HGNC ID: 4426
Relate to Another Database: SFARIGene; denovo-db
Variant Statistic Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default. Chromosome coordinates: hg19
Genetic Category CNVs/SVs de novo Mutations Mosaics SNVs NGS Other Mutations Low-Scale Gene Mutations Linkage Regions Total
Number 6 1 1 0 0 0 8
CNVs/SVs Top
CNV ID Chr Band Start End Size Gain/Loss UCSC Browser Reference
AutCNV0000146 12 12q24.21-24.33 115707280 133777650 18070370 gain external link Marshall, 2008
AutCNV0000366 12 12q24.33 130134047 133779461 3645414 external link Zwaag, 2009
AutCNV0000365 12 12q24.33 130134047 133779461 3645414 external link Zwaag, 2009
AutCNV0004303 12 12q24.21-q24.33 115685617 133779461 18093844 gain external link Sanders, 2011