LOVD HBA1 homepage

General information
Gene name hemoglobin subunit alpha 1
Gene symbol HBA1
Chromosome Location 16p13.3
Database location MingQi_Lab
Curator Peikuan Cong and Xiangmin Xu
PubMed references View all (unique) PubMed references in the HBA1 database
Date of creation February 02, 2018
Last update March 12, 2018
Version HBA1 180312
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Reference sequence file coding DNA reference sequence for describing sequence variants
Genomic refseq ID NG_000006.1
Transcript refseq ID NM_000558.4
Total number of unique DNA variants reported 45
Total number of individuals with variant(s) 45
Total number of variants reported 46
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NOTE he human alpha globin gene cluster located on chromosome 16 spans about 30 kb and includes seven loci: 5'- zeta - pseudozeta - mu - pseudoalpha-1 - alpha-2 - alpha-1 - theta - 3'. The alpha-2 (HBA2) and alpha-1 (HBA1) coding sequences are identical. These genes differ slightly over the 5' untranslated regions and the introns, but they differ significantly over the 3' untranslated regions. Two alpha chains plus two beta chains constitute HbA, which in normal adult life comprises about 97% of the total hemoglobin; alpha chains combine with delta chains to constitute HbA-2, which with HbF (fetal hemoglobin) makes up the remaining 3% of adult hemoglobin. Alpha thalassemias result from deletions of each of the alpha genes as well as deletions of both HBA2 and HBA1; some nondeletion alpha thalassemias have also been reported. [provided by RefSeq, Jul 2008]

Graphical displays and utilities
Summary tables Summary of all sequence variants in the HBA1 database, sorted by type of variant (with graphical displays and statistics)
UCSC Genome Browser Show variants in the UCSC Genome Browser (compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Sequence variant tables
Unique sequence variants Listing of all unique sequence variants in the HBA1 database, without patient data
Complete sequence variant listing Listing of all sequence variants in the HBA1 database
Variants with no known pathogenicity Listing of all HBA1 variants reported to have no noticeable phenotypic effect (note: excluding variants of unknown effect)

Search the database
By type of variant View all sequence variants of a certain type
Simple search Query the database by selecting the most important variables (exon number, type of variant, disease phenotype)
Advanced search Query the database by selecting a combination of variables
Based on patient origin View all variants based on your patient origin search terms
Search through hidden entries Find the number of variant entries in the database (including hidden entries) matching your search terms.

Links to other resources
HGNC 4823
Entrez Gene 3039
OMIM - Gene 141800
UniProtKB (SwissProt/TrEMBL) P69905
HGMD HBA1
GeneCards HBA1
GeneTests HBA1

Copyright & disclaimer
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