The KIAA0196 gene homepage

NOTE: gene name changed from KIAA0196 to WASHC5
General information
Gene symbol KIAA0196
Gene name KIAA0196
Chromosome 8
Chromosomal band q24.13
Imprinted Unknown
Genomic reference NC_000008.10
Transcript reference NM_014846.3
Exon/intron information NM_014846.3 exon/intron table
Associated with diseases RTSC1, SPG8
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 103
Unique public DNA variants reported 87
Individuals with public variants 12
Hidden variants 7
Download all this gene's data Download all data
Notes NOTE: gene name changed from KIAA0196 to WASHC5
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 May 09, 2022
Version KIAA0196:220509

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 RTSC1 (Ritscher-Schinzel syndrome 1)
SPG8 (paraplegia, spastic, autosomal dominant, type 8 (SPG-8))
GeneCards KIAA0196
GeneTests KIAA0196
Orphanet KIAA0196

Active transcripts




NCBI ID     

NCBI Protein ID     

00010487 8 KIAA0196 NM_014846.3 NP_055661.3 103

Copyright & disclaimer
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