C1QTNF5 gene homepage

This database is one of the "Eye disease" gene variant databases.
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_015645.3
Associated with diseases LORD
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 45
Unique public DNA variants reported 35
Individuals with public variants 12
Hidden variants 2
Notes This database is one of the "Eye disease" gene variant databases.
Date created July 13, 2012
Date last updated July 01, 2020
Version C1QTNF5:200701

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
Homepage URL http://www.LOVD.nl/C1QTNF5
HGNC 14344
Entrez Gene 114902
PubMed articles C1QTNF5
OMIM - Gene 608752
OMIM - Diseases LORD (retinal degeneration, late-onset (LORD))

Active transcripts




NCBI ID     

NCBI Protein ID     

00003652 11 C1q and tumor necrosis factor related protein 5 NM_015645.3 NP_056460.1 45

Copyright & disclaimer
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