The C5orf42 gene homepage

General information
Gene symbol C5orf42
Gene name chromosome 5 open reading frame 42
Chromosome 5
Chromosomal band p13.2
Imprinted Unknown
Genomic reference NG_032772.1
Transcript reference NM_023073.3
Exon/intron information NM_023073.3 exon/intron table
Associated with diseases ID, JBTS-17, OFD-6
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 443
Unique public DNA variants reported 256
Individuals with public variants 387
Hidden variants 40
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 April 18, 2012
Date last updated September 17, 2021
Version C5orf42:210917

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_023073.3.
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/C5orf42
HGNC 25801
Entrez Gene 65250
PubMed articles C5orf42
OMIM - Gene 614571
OMIM - Diseases JBTS-17 (Joubert syndrome, type 17 (JBTS-17))
OFD-6 (orofaciodigital syndrome, type VI (OFD-6))
HGMD C5orf42
GeneCards C5orf42
GeneTests C5orf42
Orphanet C5orf42


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00001675 5 chromosome 5 open reading frame 42 NM_023073.3 NP_075561.3 443


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