The HAAO gene homepage

General information
Gene symbol HAAO
Gene name 3-hydroxyanthranilate 3,4-dioxygenase
Chromosome 2
Chromosomal band p
Imprinted Unknown
Genomic reference NC_000002.11
Transcript reference NM_012205.2
Exon/intron information NM_012205.2 exon/intron table
Associated with diseases VCRL, VCRL1
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 10
Unique public DNA variants reported 10
Individuals with public variants 3
Hidden variants 0
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome.
Date created September 13, 2012
Date last updated August 06, 2020
Version HAAO:200806

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_012205.2.
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 https://www.LOVD.nl/HAAO
HGNC 4796
Entrez Gene 23498
PubMed articles HAAO
OMIM - Gene 604521
OMIM - Diseases VCRL1 (vertebral, cardiac, renal, and limb defects syndrome, type 1 (VCRL1))
HGMD HAAO
GeneCards HAAO
GeneTests HAAO


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000845 2 3-hydroxyanthranilate 3,4-dioxygenase NM_012205.2 NP_036337.2 10


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