LOVD HBG1 homepage

General information
Gene name A-gamma globin
Gene symbol HBG1
Chromosome Location 11p15.4
Database location lovd.bx.psu.edu
Curator Belinda Giardine and Joseph Borg
PubMed references View all (unique) PubMed references in the HBG1 database
Date of creation November 06, 2008
Last update August 17, 2023
Version HBG1 230817
Add sequence variant Submit a sequence variant
First time submitters Register here
Reference sequence file Genomic reference sequence for describing sequence variants
Genomic refseq ID NG_000007.3
Transcript refseq ID NM_000559.2
Total number of unique DNA variants reported 56
Total number of individuals with variant(s) 63
Total number of variants reported 63
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NOTE This information is a subset of the HbVar database. To submit new variants do not use the LOVD interface, instead send an email to hbvar-curators@bio.cse.psu.edu

Graphical displays and utilities
Summary tables Summary of all sequence variants in the HBG1 database, sorted by type of variant (with graphical displays and statistics)
UCSC Genome Browser Show variants in the UCSC Genome Browser (compact view)
PSU Genome Browser Show variants in the PSU 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 HBG1 database, without patient data
Complete sequence variant listing Listing of all sequence variants in the HBG1 database
Variants with no known pathogenicity Listing of all HBG1 variants reported to have no noticeable phenotypic effect (note: excluding variants of unknown effect)
Download table Download the full sequence variant table of the HBG1 database in tab-delimited text format.

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

Links to other resources
Homepage http://globin.bx.psu.edu/hbvar/menu.html
Entrez Gene 3047
OMIM - Gene 142200

Copyright & disclaimer
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