HAAO 3-hydroxyanthranilate 3,4-dioxygenase

Information
Symbol
HAAO
Type
protein-coding
Description
3-hydroxyanthranilate 3,4-dioxygenase
Entrez Gene ID
23498
Genome
hg19
Position
chr2:42,994,229-43,019,723
Genome
hg38
Position
chr2:42,767,089-42,792,583
MIM
604521 OMIM
HGNC
HGNC:4796 HGNC
Ensembl
ENSG00000162882 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 8
Likely pathogenic 0 10
Benign 0 18
Likely benign 0 8
Conflicting classifications of pathogenicity 0 2
Uncertain significance 0 40
Ranking
ClinVar
0
0
4
76
4
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
[No Data.]
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
Search word :
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Variant name Gene AA change CDS Japanese
frequency		 TogoVar MGeND Genome ClinVar CIViC evidence DisGeNET entry COSMIC
occurrence		 Prediction
Entry Origin Type Annotation Entry Origin Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Gene symbol Chromosome Genomic start Genomic stop Strand Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
TypeID
SYNONYM 3-HAO
SYNONYM HAO
SYNONYM VCRL1
SYNONYM h3HAO
MIM 604521 OMIM
HGNC HGNC:4796 HGNC
Ensembl ENSG00000162882 Ensembl
AllianceGenome HGNC:4796
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000294973.11 hg38 chr2 42,767,089 42,792,583 25,495
ENST00000294973.11 hg19 chr2 42,994,229 43,019,723 25,495
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