KIAA0196 gene homepage

General information
Gene symbol KIAA0196
Gene name KIAA0196
Chromosome 8
Chromosomal band q24.13
Imprinted Unknown
Genomic reference NG_012636.1
Transcript reference NM_014846.3
Exon/intron information NM_014846.3 exon/intron table
Associated with diseases SPG-8, Dandy-Walker like malformation with atrioventricular septal defect
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 2
Unique public DNA variants reported 2
Individuals with public variants 2
Hidden variants 0
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created May 03, 2013
Date last updated December 03, 2015
Version KIAA0196:151203

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_014846.3.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL
HGNC 28984
Entrez Gene 9897
PubMed articles KIAA0196
OMIM - Gene 610657
OMIM - Diseases SPG-8 (paraplegia, spastic, autosomal dominant, type 8 (SPG-8))
Dandy-Walker like malformation with atrioventricular septal defect
GeneCards KIAA0196
GeneTests KIAA0196

Active transcripts




NCBI ID     

NCBI Protein ID     

00010487 8 KIAA0196 NM_014846.3 NP_055661.3 2

Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective curator(s). Any unauthorised use, copying, storage or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2013-2017. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the curator(s) or any of their employees or agents for the effects of any product, process or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.