CHD7 gene homepage

General information
Gene symbol CHD7
Gene name chromodomain helicase DNA binding protein 7
Chromosome 8
Chromosomal band q12.2
Imprinted Unknown
Genomic reference LRG_176
Transcript reference NM_017780.3
Exon/intron information NM_017780.3 exon/intron table
Associated with diseases CHARGE, HH-5, ID
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 392
Unique public DNA variants reported 318
Individuals with public variants 14
Hidden variants 44
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 June 25, 2012
Date last updated July 19, 2019
Version CHD7:190719

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_017780.3.
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 http://www.LOVD.nl/CHD7
HGNC 20626
Entrez Gene 55636
PubMed articles CHD7
OMIM - Gene 608892
OMIM - Diseases CHARGE (CHARGE syndrome)
HH-5 (hypogonadism, hypogonadotropic, type 5 with/without anosmia (HH-5))
HGMD CHD7
GeneCards CHD7
GeneTests CHD7


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000234 8 chromodomain helicase DNA binding protein 7 NM_017780.3 NP_060250.2 392


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