CHD1 chromodomain helicase DNA binding protein 1
Gene ID: 1105, updated on 11-Apr-2024Gene type: protein coding
Also known as: CHD-1; PILBOS
- See all available tests in GTR for this gene
- Go to complete Gene record for CHD1
- Go to Variation Viewer for CHD1 variants
Summary
The CHD family of proteins is characterized by the presence of chromo (chromatin organization modifier) domains and SNF2-related helicase/ATPase domains. CHD genes alter gene expression possibly by modification of chromatin structure thus altering access of the transcriptional apparatus to its chromosomal DNA template. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genome-wide association study of chronic periodontitis in a general German population. GeneReviews: Not available | |
| Heritability and genome-wide association analysis of renal sinus fat accumulation in the Framingham Heart Study. GeneReviews: Not available | |
| Pilarowski-Bjornsson syndrome | See labs |
Genomic context
- Location:
- 5q15-q21.1
- Sequence:
- Chromosome: 5; NC_000005.10 (98853985..98929007, complement)
- Total number of exons:
- 39
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for CHD1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- Variation ViewerRelated Variants
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