The PEX19 gene homepage

This database is one of the dbPEX gene variant databases.
General information
Gene symbol PEX19
Gene name peroxisomal biogenesis factor 19
Chromosome 1
Chromosomal band q22
Imprinted Unknown
Genomic reference NG_008637.1
Transcript reference NM_002857.3
Exon/intron information NM_002857.3 exon/intron table
Associated with diseases PBD12A
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Nancy Braverman
Total number of public variants reported 42
Unique public DNA variants reported 34
Individuals with public variants 7
Hidden variants 5
Download all this gene's data Download all data
Notes This database is one of the dbPEX gene variant databases.
Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome.
Date created May 05, 2006
Date last updated February 26, 2024
Version PEX19:240226

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_002857.3.
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/PEX19
HGNC 9713
Entrez Gene 5824
PubMed articles PEX19
OMIM - Gene 600279
OMIM - Diseases PBD12A (peroxisome biogenesis disorder, type 12A (PBD12A))
HGMD PEX19
GeneCards PEX19
GeneTests PEX19
Orphanet PEX19


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00015997 1 transcript variant 1 NM_002857.3 NP_002848.1 42


Copyright & disclaimer
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