AutismKB 2.0

Variant Details for C22orf34


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Basic Information Top
Gene Symbol:C22orf34 ( - )
Gene Full Name: chromosome 22 open reading frame 34
Band: 22q13.33
Quick LinksEntrez ID:348645; OMIM: NA; Uniprot ID:; ENSEMBL ID: ; HGNC ID: 28010
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 26 0 0 0 0 0 26
CNVs/SVs Top
CNV ID Chr Band Start End Size Gain/Loss UCSC Browser Reference
AutCNV0000296 22 22q13.3 44268667 51244566 6975899 loss external link Goizet, 2000
AutCNV0000282 22 22q13 37570054 51244566 13674512 loss external link Prasad, 2000
AutCNV0000277 22 22q13 37570054 51244566 13674512 gain external link Wassink, 2001
AutCNV0000048 22 22q13.32-13.33 49683739 50578843 895104 loss external link Szatmari, 2007
AutCNV0000015 22 22q13.31-13.33 46823508 51175739 4352231 loss external link Sebat, 2007
AutCNV0000245 22 22q13.33 49405476 49971758 566282 gain external link Christian, 2008
AutCNV0000192 22 22q13.31 49831428 49911808 80380 loss external link Marshall, 2008
AutCNV0000191 22 22q13.31 49396439 49997967 601528 gain external link Marshall, 2008
AutCNV0000159 22 22q13.31-13.33 47956881 51218956 3262075 loss external link Marshall, 2008
AutCNV0000386 22 22q13.33 Zwaag, 2009
AutCNV0000385 22 22q13.33 Zwaag, 2009
AutCNV0001161 22 22q13.33 49841070 49900249 59179 loss external link Pinto, 2010
AutCNV0003011 22 22q13.33 49841070 49900249 59179 loss external link Pinto, 2010
AutCNV0002220 22 22q13.33 49841070 49900249 59179 loss external link Pinto, 2010
AutCNV0002219 22 22q13.32-13.33 49394311 50001481 607170 gain external link Pinto, 2010
AutCNV0001371 22 22q13.32-13.33 49394311 50001481 607170 gain external link Pinto, 2010
AutCNV0001162 22 22q13.33 49841070 49900249 59179 loss external link Pinto, 2010
AutCNV0003786 22 22q13.33 49841070 49900249 59179 loss external link Gai, 2011
AutCNV0000710 22 22q13.2-qter loss Chen, 2011
AutCNV0003785 22 22q13.32-13.33 49399415 50034987 635572 gain external link Gai, 2011
AutCNV0003784 22 22q13.32-13.33 49399415 50017234 617819 gain external link Gai, 2011
AutCNV0003783 22 22q13.32-13.33 49327625 49948250 620625 gain external link Gai, 2011
AutCNV0003443 22 22q13.33 49816632 49855674 39042 loss external link Gai, 2011
AutCNV0004435 22 22q13.33 49927968 50097717 169749 gain external link Nord, 2011
AutCNV0004396 22 22q13.31-q13.33 47898736 51162234 3263498 loss external link Sanders, 2011
AutCNV0004395 22 22q13.31-q13.33 46765363 51119017 4353654 loss external link Sanders, 2011
NGS de novo Mutations Top
iFish (integrated Functional inference of SNVs in human) is based on gene/gene family customized models to classify missense mutations.
Chr Pos Ref Alt Coding AA Validated Method iFish Prediction iFish Probability Reference
No related data!
NGS Mosaic Mutations Top
Chr Position Ref Alt Genotype Validated Method Reference
No related data!
NGS Other Mutations Top
Chr Pos Ref Alt Coding AA Validated iFish Prediction iFish Probability Reference
No related data!
Low-Scale Gene Mutations Top
Chr Pos Ref Alt Coding AA Validated iFish Prediction iFish Probability Reference
No related data!
Linkage Regions Top
Linkage Name Band Chr Marker LOD NPL P Value Reference
No related data!




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  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018


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