PDS5A gene homepage

General information
Gene symbol PDS5A
Gene name PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)
Chromosome 4
Chromosomal band p14
Imprinted Unknown
Genomic reference NG_021172.1
Transcript reference NM_001100399.1
Exon/intron information NM_001100399.1 exon/intron table
Associated with diseases -
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 20
Unique public DNA variants reported 16
Individuals with public variants 209
Hidden variants 0
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 March 01, 2010
Date last updated August 24, 2018
Version PDS5A:180824

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_001100399.1.
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 https://www.LOVD.nl/PDS5A
External URL Orphanet
HGNC 29088
Entrez Gene 23244
PubMed articles PDS5A
OMIM - Gene 613200
HGMD PDS5A
GeneCards PDS5A
GeneTests PDS5A


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00001431 4 transcript variant 1 NM_001100399.1 NP_001093869.1 20


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