AutismKB 2.0

Variant Details for RBM12B


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Basic Information Top
Gene Symbol:RBM12B ( MGC:33837 )
Gene Full Name: RNA binding motif protein 12B
Band: 8q22.1
Quick LinksEntrez ID:389677; OMIM: NA; Uniprot ID:RB12B_HUMAN; ENSEMBL ID: ENSG00000183808; HGNC ID: 32310
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 0 1 1 0 0 0 2
CNVs/SVs Top
CNV ID Chr Band Start End Size Gain/Loss UCSC Browser Reference
No related data!
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
8 94746964 G A c.1675C>T p.Arg559* Sanger sequencing Takata A, 2018
NGS Mosaic Mutations Top
Chr Position Ref Alt Genotype Validated Method Reference
8 94747808 A C High-confidence mosaics Resequencing Lim ET, 2017
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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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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