CDAN1 codanin 1
Gene ID: 146059, updated on 27-Aug-2024Gene type: protein coding
Also known as: DLT; CDA1; CDAI; CDAN1A; PRO1295
- See all available tests in GTR for this gene
- Go to complete Gene record for CDAN1
- Go to Variation Viewer for CDAN1 variants
Summary
This gene encodes a protein that appears to play a role in nuclear envelope integrity, possibly related to microtubule attachments. Mutations in this gene cause congenital dyserythropoietic anemia type I, a disease resulting in morphological and functional abnormalities of erythropoiesis. [provided by RefSeq, Jul 2009]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association study identifies protein quantitative trait loci (pQTLs). GeneReviews: Not available | |
| Anemia, congenital dyserythropoietic, type 1a | See labs |
| Congenital dyserythropoietic anemia, type I MedGen: C0271933GeneReviews: Congenital Dyserythropoietic Anemia Type I | See labs |
Genomic context
- Location:
- 15q15.2
- Sequence:
- Chromosome: 15; NC_000015.10 (42723544..42737128, complement)
- Total number of exons:
- 28
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for CDAN1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- CDAN1 database
- 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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