G6PD gene homepage

NOTE: when referring to this database please cite Minucci et al. 2012.
General information
Gene symbol G6PD
Gene name glucose-6-phosphate dehydrogenase
Chromosome X
Chromosomal band q28
Imprinted Unknown
Genomic reference LRG_148
Transcript reference NM_001042351.1
Exon/intron information NM_001042351.1 exon/intron table
Associated with diseases favism, HAG, MLRS
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Ettore Capoluongo
Total number of public variants reported 222
Unique public DNA variants reported 208
Individuals with public variants 186
Hidden variants 1
Notes NOTE: when referring to this database please cite Minucci et al. 2012.
Date created March 06, 2009
Date last updated February 09, 2019
Version G6PD:190209

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_001042351.1.
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
Homepage URL http://www.LOVD.nl/G6PD
External URL Orphanet
HGNC 4057
Entrez Gene 2539
PubMed articles G6PD
OMIM - Gene 305900
OMIM - Diseases favism (favism, susceptibility to)
HAG (anemia, hemolytic, due to G6PD deficiency (HAG))
MLRS (malaria, susceptibility to, resistance (MLRS))
GeneCards G6PD
GeneTests G6PD

Active transcripts




NCBI ID     

NCBI Protein ID     

00023901 X transcript variant 2 NM_001042351.1 NP_001035810.1 222

Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective curator(s). Any unauthorised use, copying, storage or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2009-2019. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the curator(s) or any of their employees or agents for the effects of any product, process or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.