AutismKB 2.0

Variant Details for GABRB3


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Basic Information Top
Gene Symbol:GABRB3 ( ECA5,MGC9051 )
Gene Full Name: gamma-aminobutyric acid (GABA) A receptor, beta 3
Band: 15q12
Quick LinksEntrez ID:2562; OMIM: 137192; Uniprot ID:GBRB3_HUMAN; ENSEMBL ID: ENSG00000166206; HGNC ID: 4083
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 45 1 0 1 4 0 51
CNVs/SVs Top
CNV ID Chr Band Start End Size Gain/Loss UCSC Browser Reference
AutCNV0000284 15 15q11-13 gain Wolpert, 2000
AutCNV0000273 15 15q11.2-13 gain Wassink, 2001
AutCNV0000272 15 15q11.2-13 loss Wassink, 2001
AutCNV0000258 15 15q11-13 gain Silva, 2002
AutCNV0000290 15 15q11-13 gain Keller, 2003
AutCNV0000280 15 15q11-13 26434396 30162567 3728171 gain external link Bolton, 2004
AutCNV0000298 15 15q11-12 25257404 29097694 3840290 gain external link Mann, 2004
AutCNV0000297 15 15q11-12 25257404 29789038 4531634 gain external link Mann, 2004
AutCNV0000288 15 15p11-q13 20330217 28910301 8580084 gain external link Sahoo, 2005
AutCNV0000287 15 15p11-q13 20330217 32990417 12660200 gain external link Sahoo, 2005
AutCNV0000286 15 15q11-13 23577903 28910301 5332398 gain external link Sahoo, 2005
AutCNV0000285 15 15q11-13 22646195 28910301 6264106 gain external link Sahoo, 2005
AutCNV0000133 15 15q11-13 25184942 31748742 6563800 gain external link Jacquemont, 2006
AutCNV0000279 15 15q11.2-13 gain Wassink, 2007
AutCNV0000109 15 15q12 25774207 26944607 1170400 gain external link Szatmari, 2007
AutCNV0000046 15 15q11.2-12 23939207 28024805 4085598 gain external link Szatmari, 2007
AutCNV0000268 15 15q11-13 25257428 33573585 8316157 gain external link Kwasnicka-Crawford, 2007
AutCNV0000027 15 15q12 25774207 26944607 1170400 gain external link Szatmari, 2007
AutCNV0000025 15 15q11.2-12 23939207 28024805 4085598 gain external link Szatmari, 2007
AutCNV0000010 15 15q11-13.33 20266957 32969479 12702522 gain external link Sebat, 2007
AutCNV0000148 15 15q11.2-13.3 20116186 32511508 12395322 gain external link Marshall, 2008
AutCNV0000226 15 15q11-13 22646319 28396011 5749692 gain external link Christian, 2008
AutCNV0000016 15 15q11-13 gain Weiss, 2008
AutCNV0000225 15 15q11-13 22877142 28396011 5518869 gain external link Christian, 2008
AutCNV0000224 15 15q11-13 22424462 28396011 5971549 gain external link Christian, 2008
AutCNV0000181 15 15q11.2-q13.3 20116186 32511508 12395322 gain external link Marshall, 2008
AutCNV0000149 15 15q11.2-13.3 20167086 32511555 12344469 gain external link Marshall, 2008
AutCNV0000676 15 15q11-13 gain Bremer, 2009
AutCNV0000588 15 15q11.2-13.1 23807110 28350019 4542909 gain external link Gregory, 2009
AutCNV0000824 15 15q11.2-13.1 23639183 28530359 4891176 gain external link Pinto, 2010
AutCNV0004316 15 15q11.2-q13.1 23688944 28422026 4733082 gain external link Sanders, 2011
AutCNV0004315 15 15q11.2-q13.1 23639183 28530359 4891176 gain external link Sanders, 2011
AutCNV0004314 15 15q11.2-q13.1 22265649 28460519 6194870 gain external link Sanders, 2011
AutCNV0004313 15 15q11.2-q13.3 20266957 32969479 12702522 gain external link Sanders, 2011
AutCNV0004312 15 15q11.2-q13.3 20167086 32511555 12344469 gain external link Sanders, 2011
AutCNV0004311 15 15q11.1-q13.3 20116186 32511508 12395322 gain external link Sanders, 2011
AutCNV0003836 15 15q11.2-q13.1 23673045 28639666 4966621 gain external link Levy, 2011
AutCNV0004964 15 15q12 gain Hadley D, 2014
AutCNV0004746 9 loss Lionel AC, 2014
AutCNV0004747 9 loss Lionel AC, 2014