COL3A1 collagen type III alpha 1 chain
Gene ID: 1281, updated on 5-Mar-2024Gene type: protein coding
Also known as: EDS4A; EDSVASC; PMGEDSV
- See all available tests in GTR for this gene
- Go to complete Gene record for COL3A1
- Go to Variation Viewer for COL3A1 variants
Summary
This gene encodes the pro-alpha1 chains of type III collagen, a fibrillar collagen that is found in extensible connective tissues such as skin, lung, uterus, intestine and the vascular system, frequently in association with type I collagen. Mutations in this gene are associated with Ehlers-Danlos syndrome type IV, and with aortic and arterial aneurysms. [provided by R. Dalgleish, Feb 2008]
Associated conditions
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity No evidence available (Last evaluated 2017-01-12) ClinGen Genome Curation PageHaploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2017-01-12) ClinGen Genome Curation PagePubMed |
Genomic context
- Location:
- 2q32.2
- Sequence:
- Chromosome: 2; NC_000002.12 (188974373..189012746)
- Total number of exons:
- 51
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for COL3A1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- Database of osteogenesis imperfecta and type III collagen mutations
- dbVarLink from Gene to dbVar
- Ehlers-Danlos Syndrome Variant Database COL3A1
- 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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