HIBADH 3-hydroxyisobutyrate dehydrogenase

Information
Symbol
HIBADH
Type
protein-coding
Description
3-hydroxyisobutyrate dehydrogenase
Entrez Gene ID
11112
Genome
hg19
Position
chr7:27,565,061-27,702,502
Genome
hg38
Position
chr7:27,525,442-27,662,883
MIM
608475 OMIM
HGNC
HGNC:4907 HGNC
Ensembl
ENSG00000106049 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 2
Uncertain significance 0 36
Ranking
ClinVar
0
0
0
38
0
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 :
Filtering :
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 NS5ATP1
MIM 608475 OMIM
HGNC HGNC:4907 HGNC
Ensembl ENSG00000106049 Ensembl
AllianceGenome HGNC:4907
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000265395.7 hg38 chr7 27,525,442 27,662,883 137,442
ENST00000265395.7 hg19 chr7 27,565,061 27,702,502 137,442
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