CHCHD7 coiled-coil-helix-coiled-coil-helix domain containing 7
Gene ID: 79145, updated on 6-Oct-2024Gene type: protein coding
Also known as: COX23
- See all available tests in GTR for this gene
- Go to complete Gene record for CHCHD7
- Go to Variation Viewer for CHCHD7 variants
Summary
Predicted to be located in mitochondrial intermembrane space. [provided by Alliance of Genome Resources, Apr 2022]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Identification of ten loci associated with height highlights new biological pathways in human growth. GeneReviews: Not available | |
| Many sequence variants affecting diversity of adult human height. GeneReviews: Not available | |
| Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci. GeneReviews: Not available |
Genomic context
- Location:
- 8q12.1
- Sequence:
- Chromosome: 8; NC_000008.11 (56211789..56218809)
- Total number of exons:
- 6
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for CHCHD7 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- 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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