ADH1B alcohol dehydrogenase 1B (class I), beta polypeptide

Information
Symbol
ADH1B
Type
protein-coding
Description
alcohol dehydrogenase 1B (class I), beta polypeptide
Entrez Gene ID
125
Genome
hg19
Position
chr4:100,226,128-100,242,558
Genome
hg38
Position
chr4:99,304,971-99,321,401
MIM
103720 OMIM
HGNC
HGNC:250 HGNC
Ensembl
ENSG00000196616 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 14
Likely benign 0 4
protective 0 2
Uncertain significance 0 50
Ranking
ClinVar
0
0
0
68
2
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 :
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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 ADH2
SYNONYM HEL-S-117
MIM 103720 OMIM
HGNC HGNC:250 HGNC
Ensembl ENSG00000196616 Ensembl
AllianceGenome HGNC:250
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000305046.13 hg38 chr4 99,304,971 99,321,401 16,431
ENST00000506651.5 hg38 chr4 99,307,493 99,321,401 13,909
ENST00000625860.2 hg38 chr4 99,304,977 99,321,399 16,423
ENST00000305046.13 hg19 chr4 100,226,128 100,242,558 16,431
ENST00000625860.2 hg19 chr4 100,226,134 100,242,556 16,423
ENST00000506651.5 hg19 chr4 100,228,650 100,242,558 13,909
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