KIAA0586 gene homepage

General information
Gene symbol KIAA0586
Gene name KIAA0586
Chromosome 14
Chromosomal band q23.1
Imprinted Unknown
Genomic reference NG_051335.2
Transcript reference NM_001244189.1, NM_014749.3
Exon/intron information NM_001244189.1 exon/intron table
Associated with diseases JBTS-23
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 42
Unique public DNA variants reported 38
Individuals with public variants 85
Hidden variants 30
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 June 24, 2020
Version KIAA0586:200624

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_001244189.1.
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 19960
Entrez Gene 9786
PubMed articles KIAA0586
OMIM - Gene 610178
OMIM - Diseases JBTS-23 (Joubert syndrome, type 23 (JBTS-23))
GeneCards KIAA0586
GeneTests KIAA0586

Active transcripts




NCBI ID     

NCBI Protein ID     

00025328 14 transcript variant 1 NM_001244189.1 NP_001231118.1 42
00010502 14 transcript variant 5 NM_014749.3 NP_055564.3 41

Copyright & disclaimer
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