The ALDH7A1 gene homepage

General information
Gene symbol ALDH7A1
Gene name aldehyde dehydrogenase 7 family, member A1
Chromosome 5
Chromosomal band q31
Imprinted Unknown
Genomic reference NG_008600.2
Transcript reference NM_001182.4
Exon/intron information NM_001182.4 exon/intron table
Associated with diseases EPD
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (2) Johan Van Hove and Curtis Coughlin II
Total number of public variants reported 428
Unique public DNA variants reported 181
Individuals with public variants 242
Hidden variants 11
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created May 03, 2013
Date last updated September 17, 2021
Version ALDH7A1:210917

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_001182.4.
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
HGNC 877
Entrez Gene 501
PubMed articles ALDH7A1
OMIM - Gene 107323
OMIM - Diseases EPD (epilepsy, pyridoxine-dependent (EPD))
GeneCards ALDH7A1
GeneTests ALDH7A1
Orphanet ALDH7A1

Active transcripts




NCBI ID     

NCBI Protein ID     

00002360 5 transcript variant 1 NM_001182.4 NP_001173.2 428

Copyright & disclaimer
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