C1QBP gene homepage

MSeqDR-LSDB: Mitochondrial Disease LSDB
General information
Gene symbol C1QBP
Gene name complement component 1, q subcomponent binding protein
Chromosome 17
Chromosomal band p13.3
Imprinted Unknown
Genomic reference NC_000017.10
Transcript reference NM_001212.3
Associated with diseases 617713
Citation reference(s) -
Curators (0) -
Total number of public variants reported 6
Unique public DNA variants reported 6
Individuals with public variants 0
Hidden variants 0
Download all this gene's data Download all data
Notes MSeqDR-LSDB
Date created November 15, 2013
Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
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
HGNC 1243
Entrez Gene 708
PubMed articles C1QBP
OMIM - Gene 601269
OMIM - Diseases 617713 (Combined oxidative phosphorylation deficiency 33, 617713 (3))
HGMD C1QBP
GeneCards C1QBP
GeneTests C1QBP


Active transcripts


ID     
Chr     
Name     
NCBI ID     
NCBI Protein ID     
DescendingVariants     
00001659 17 complement component 1, q subcomponent binding protein NM_001212.3 NP_001203.1 6


Copyright & disclaimer
; MitoCarta http://www.broadinstitute.org/pubs/MitoCarta/

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium

  Powered by LOVD v.3.0 Build 21
LOVD software ©2004-2018 Leiden University Medical Center