HBB hemoglobin subunit beta

Information
Symbol
HBB
Type
protein-coding
Description
hemoglobin subunit beta
Entrez Gene ID
3043
Genome
hg19
Position
chr11:5,246,694-5,248,427
Genome
hg38
Position
chr11:5,225,464-5,227,197
MIM
141900 OMIM
HGNC
HGNC:4827 HGNC
Ensembl
ENSG00000244734 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 2 604
Likely pathogenic 0 164
Benign 0 58
Likely benign 0 1,526
Conflicting classifications of pathogenicity 0 228
Likely pathogenic; other 0 2
no classification for the single variant 0 14
not provided 0 8
other 0 424
Pathogenic; other 0 62
Uncertain significance 0 390
Ranking
ClinVar
0
0
442
1,920
762
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 CD113t-C
SYNONYM ECYT6
SYNONYM beta-globin
MIM 141900 OMIM
HGNC HGNC:4827 HGNC
Ensembl ENSG00000244734 Ensembl
AllianceGenome HGNC:4827
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000647020.1 hg38 chr11 5,225,464 5,227,197 1,734
ENST00000485743.1 hg38 chr11 5,226,263 5,227,072 810
ENST00000335295.4 hg38 chr11 5,225,464 5,227,071 1,608
ENST00000335295.4 hg19 chr11 5,246,694 5,248,301 1,608
ENST00000647020.1 hg19 chr11 5,246,694 5,248,427 1,734
ENST00000485743.1 hg19 chr11 5,247,493 5,248,302 810
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