HLA-DQB1 major histocompatibility complex, class II, DQ beta 1

Information
Symbol
HLA-DQB1
Type
protein-coding
Description
major histocompatibility complex, class II, DQ beta 1
Entrez Gene ID
3119
Genome
hg19
Position
chr6:32,627,244-32,634,461
Genome
hg38
Position
chr6:32,659,467-32,666,684
MIM
604305 OMIM
HGNC
HGNC:4944 HGNC
Ensembl
ENSG00000179344 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 2
Likely benign 0 6
not provided 208 0
Ranking
ClinVar
0
0
0
8
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
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 CELIAC1
SYNONYM HLA-DQB
SYNONYM IDDM1
MIM 604305 OMIM
HGNC HGNC:4944 HGNC
Ensembl ENSG00000179344 Ensembl
AllianceGenome HGNC:4944
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000434651.7 hg38 chr6 32,659,467 32,666,657 7,191
ENST00000399079.7 hg38 chr6 32,659,467 32,666,664 7,198
ENST00000399084.5 hg38 chr6 32,659,467 32,668,383 8,917
ENST00000399082.7 hg38 chr6 32,659,467 32,666,652 7,186
ENST00000374943.8 hg38 chr6 32,659,467 32,666,684 7,218
ENST00000399082.7 hg19 chr6 32,627,244 32,634,429 7,186
ENST00000434651.7 hg19 chr6 32,627,244 32,634,434 7,191
ENST00000399079.7 hg19 chr6 32,627,244 32,634,441 7,198
ENST00000374943.8 hg19 chr6 32,627,244 32,634,461 7,218
ENST00000399084.5 hg19 chr6 32,627,244 32,636,160 8,917
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