The C1QTNF5 gene homepage

General information
Gene symbol C1QTNF5
Gene name C1q and tumor necrosis factor related protein 5
Chromosome 11
Chromosomal band q23.3
Imprinted Unknown
Genomic reference NG_012235.1
Transcript reference NM_001278431.1, NM_015645.4, NM_015645.4
Associated with diseases LORD
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 294
Unique public DNA variants reported 26
Individuals with public variants 35
Hidden variants 11
Date created November 30, -0001
Date last updated September 28, 2016
Version C1QTNF5:160928

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
External URL List of LSDBs for this gene
The reference LOVD for this gene, if available
HGNC HGNC:14344
Entrez Gene 114902
PubMed articles C1QTNF5
OMIM - Gene 608752
OMIM - Diseases LORD (retinal degeneration, late-onset (LORD))


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00034786 11 transcript variant 1 NM_015645.4 NP_056460.1 294
00034787 11 transcript variant 2 NM_001278431.1 NP_001265360.1 263
00031282 11 transcript variant 1 NM_015645.4 NP_056460.1 -