The SRD5A3 gene homepage

Euroglycanet logoCongenital Disorders of Glycosylation (CDG)
Some variants in this database are copied from the CDG database at the Euroglycanet site.
General information
Gene symbol SRD5A3
Gene name steroid 5 alpha-reductase 3
Chromosome 4
Chromosomal band q12
Imprinted Unknown
Genomic reference NG_028230.1
Transcript reference NM_024592.4
Exon/intron information NM_024592.4 exon/intron table
Associated with diseases CDG-1Q, ID, KHRZ
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Gert Matthijs
Total number of public variants reported 16
Unique public DNA variants reported 12
Individuals with public variants 6
Hidden variants 3
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
Date created September 05, 2012
Date last updated November 05, 2020
Version SRD5A3:201105

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_024592.4.
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 http://www.LOVD.nl/SRD5A3
External URL Congenital Disorder of Glycosylation pages
HGNC 25812
Entrez Gene 79644
PubMed articles SRD5A3
OMIM - Gene 611715
OMIM - Diseases CDG-1Q (glycosylation, congenital disorder of, type Iq (CDG-1Q))
KHRZ (Kahrizi syndrome (KHRZ))
HGMD SRD5A3
GeneCards SRD5A3
GeneTests SRD5A3
Orphanet SRD5A3


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00020277 4 steroid 5 alpha-reductase 3 NM_024592.4 NP_078868.1 16


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