The HBB gene homepage

General information
Gene symbol HBB
Gene name hemoglobin, beta
Chromosome 11
Chromosomal band p15.5
Imprinted Unknown
Genomic reference NC_000011.9
Transcript reference NM_000518.4
Associated with diseases HBFQTL-1, MLRS, anemia, anemia, Heinz body, anemia, sickle cell (Hb SS disease), thalassemia, beta, thalassemia, beta, dominant inclusion body type
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 58
Unique public DNA variants reported 2
Individuals with public variants 35
Hidden variants 6
Date created February 24, 2015
Date last updated September 28, 2016
Version HBB:160928

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
HGNC HGNC:4827
Entrez Gene 3043
PubMed articles HBB
OMIM - Gene 141900
OMIM - Diseases HBFQTL-1 (hemoglobin, fetal, quantitative trait locus 1 (HBFQTL-1))
MLRS (malaria, susceptibility to, resistance (MLRS))
anemia, Heinz body
anemia, sickle cell (Hb SS disease)
thalassemia, beta
thalassemia, beta, dominant inclusion body type


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00048880 11 hemoglobin, beta NM_000518.4 NP_000509.1 58