CHRDL1 chordin like 1
Gene ID: 91851, updated on 28-Oct-2024Gene type: protein coding
Also known as: CHL; MGC1; MGCN; VOPT; NRLN1; dA141H5.1
- See all available tests in GTR for this gene
- Go to complete Gene record for CHRDL1
- Go to Variation Viewer for CHRDL1 variants
Summary
This gene encodes an antagonist of bone morphogenetic protein 4. The encoded protein may play a role in topographic retinotectal projection and in the regulation of retinal angiogenesis in response to hypoxia. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jan 2009]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association study in Europeans and South Asians identifies five new loci for coronary artery disease. GeneReviews: Not available | |
| Isolated congenital megalocornea | See labs |
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity No evidence available (Last evaluated 2016-12-08) ClinGen Genome Curation PageHaploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2016-12-08) ClinGen Genome Curation PagePubMed |
Genomic context
- Location:
- Xq23
- Sequence:
- Chromosome: X; NC_000023.11 (110673856..110795817, complement)
- Total number of exons:
- 13
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for CHRDL1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- CHRDL1 @ LOVD
- 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
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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