EVC EvC ciliary complex subunit 1
Gene ID: 2121, updated on 28-Oct-2024Gene type: protein coding
Also known as: EVC1; EVCL; DWF-1
- See all available tests in GTR for this gene
- Go to complete Gene record for EVC
- Go to Variation Viewer for EVC variants
Summary
This gene encodes a protein containing a leucine zipper and a transmembrane domain. This gene has been implicated in both Ellis-van Creveld syndrome (EvC) and Weyers acrodental dysostosis. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide search for loci interacting with known prostate cancer risk-associated genetic variants. GeneReviews: Not available | |
| Curry-Hall syndrome | See labs |
| Ellis-van Creveld syndrome | See labs |
Genomic context
- Location:
- 4p16.2
- Sequence:
- Chromosome: 4; NC_000004.12 (5711201..5829057)
- Total number of exons:
- 29
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for EVC variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- EVC database
- 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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