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Gene

COL3A1

collagen type III alpha 1 chain

Summary

Cytogenetic location
2q32.2
Coordinates
Chromosome 2: 188,974,373–189,012,746 (GRCh38)
Exons
51 exons across 38.4 kb
Protein
1,466 amino acids
Inheritance
Autosomal recessive
Previous symbols
EDS4A
MANE Select transcript
ENST00000304636.9NM_000090.4
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated report relevant to this gene

  • Ehlers-Danlos Syndrome

    • Polymicrogyria with or without vascular-type Ehlers-Danlos syndromeAutosomal recessive

      A condition caused by biallelic COL3A1 variants that combines a brain malformation (polymicrogyria) with features of vascular Ehlers-Danlos syndrome.

      • 1 GenCC submitter rates it definitive or strong
      • ClinGen rates the link definitive
      • 5 GenCC submitters rate it definitive or strong
      • On the ACMG secondary findings list

Inheritance

Autosomal recessive
It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.

How COL3A1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Variants with a page
Chromosome 2, with a bracket where COL3A1 sits. COL3A1 and 3 genes near it on chromosome 2, from 188,493,560 to 189,493,559.Chromosome 22q32.2p25.3p25.2p25.1p24.3p24.2p24.1p23.3p23.2p23.1p22.3p22.2p22.1p21p16.3p16.2p16.1p15p14p13.3p13.2p13.1p12p11.2p11.1q11.1q11.2q12.1q12.2q12.3q13q14.1q14.2q14.3q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.3q31.1q31.2q31.3q32.1q32.2q32.3q33.1q33.2q33.3q34q35q36.1q36.2q36.3q37.1q37.2q37.3188.6 Mb188.8 Mb189 Mb189.2 Mb189.4 MbGULP1: 188,291,105–188,595,943, forward strandGULP1COL3A1: 188,974,373–189,012,746, forward strandCOL3A1COL5A2: 189,030,743–189,225,312, reverse strandCOL5A2WDR75: 189,441,429–189,485,916, forward strandWDR75Diagram of COL3A1: 51 exons on the forward strand of chromosome 2Exon 1: 1 known disease-causing siteExon 2: 8 known disease-causing sitesExon 3: 1 known disease-causing siteExon 4: 4 known disease-causing sitesExon 5: 3 known disease-causing sitesExon 6: 7 known disease-causing sitesExon 7: 7 known disease-causing sitesExon 8: 8 known disease-causing sitesExon 9: 11 known disease-causing sitesExon 10: 11 known disease-causing sitesExon 11: 12 known disease-causing sitesExon 12: 4 known disease-causing sitesExon 13: 7 known disease-causing sitesExon 14: 9 known disease-causing sitesExon 15: 3 known disease-causing sitesExon 16: 9 known disease-causing sitesExon 17: 7 known disease-causing sitesExon 18: 13 known disease-causing sitesExon 19: 8 known disease-causing sitesExon 20: 12 known disease-causing sitesExon 21: 5 known disease-causing sitesExon 22: 4 known disease-causing sitesExon 23: 6 known disease-causing sitesExon 24: 13 known disease-causing sitesExon 25: 10 known disease-causing sitesExon 26: 9 known disease-causing sitesExon 27: 5 known disease-causing sitesExon 28: 2 known disease-causing sitesExon 29: 7 known disease-causing sitesExon 30: 17 known disease-causing sitesExon 31: 17 known disease-causing sitesExon 32: 7 known disease-causing sitesExon 33: 8 known disease-causing sitesExon 34: 4 known disease-causing sitesExon 35: 6 known disease-causing sitesExon 36: 11 known disease-causing sitesExon 37: 4 known disease-causing sitesExon 38: 3 known disease-causing sitesExon 39: 24 known disease-causing sitesExon 40: 14 known disease-causing sitesExon 41: 9 known disease-causing sitesExon 42: 7 known disease-causing sitesExon 43: 12 known disease-causing sitesExon 44: 5 known disease-causing sitesExon 45: 13 known disease-causing sitesExon 46: 5 known disease-causing sitesExon 47: 13 known disease-causing sitesExon 48: 10 known disease-causing sitesExon 49: 4 known disease-causing sitesExon 50: 6 known disease-causing sitesExon 51: 6 known disease-causing sitesExon 1: 188,974,373–188,974,568, 196 basesExon 2: 188,984,760–188,984,962, 203 bases. 1 variant with a page in exon 2. List themExon 3: 188,985,197–188,985,247, 51 basesExon 4: 188,985,665–188,985,778, 114 basesExon 5: 188,987,059–188,987,139, 81 basesExon 6: 188,988,081–188,988,134, 54 bases. 2 variants with a page in exon 6. List themExon 7: 188,988,590–188,988,643, 54 basesExon 8: 188,989,396–188,989,449, 54 bases. 3 variants with a page in exon 8. List themExon 9: 188,990,096–188,990,149, 54 bases. 2 variants with a page in exon 9. List themExon 10: 188,990,307–188,990,360, 54 bases. 1 variant with a page in exon 10. List themExon 11: 188,991,004–188,991,057, 54 bases. 1 variant with a page in exon 11. List themExon 12: 188,991,487–188,991,531, 45 bases. 1 variant with a page in exon 12. List themExon 13: 188,991,669–188,991,722, 54 bases. 1 variant with a page in exon 13. List themExon 14: 188,992,184–188,992,228, 45 bases. 2 variants with a page in exon 14. List themExon 15: 188,992,887–188,992,940, 54 bases. 2 variants with a page in exon 15. List themExon 16: 188,993,361–188,993,459, 99 bases. 2 variants with a page in exon 16. List themExon 17: 188,994,038–188,994,082, 45 bases. 1 variant with a page in exon 17. List themExon 18: 188,994,234–188,994,332, 99 bases. 2 variants with a page in exon 18. List themExon 19: 188,994,541–188,994,594, 54 bases. 1 variant with a page in exon 19. List themExon 20: 188,994,724–188,994,831, 108 bases. 1 variant with a page in exon 20. List themExon 21: 188,995,046–188,995,099, 54 bases. 1 variant with a page in exon 21. List themExon 22: 188,995,692–188,995,790, 99 basesExon 23: 188,996,125–188,996,178, 54 bases. 1 variant with a page in exon 23. List themExon 24: 188,996,398–188,996,496, 99 bases. 3 variants with a page in exon 24. List themExon 25: 188,997,165–188,997,218, 54 bases. 2 variants with a page in exon 25. List themExon 26: 188,997,336–188,997,389, 54 bases. 2 variants with a page in exon 26. List themExon 27: 188,997,700–188,997,753, 54 basesExon 28: 188,998,266–188,998,319, 54 bases. 1 variant with a page in exon 28. List themExon 29: 188,998,674–188,998,718, 45 bases. 1 variant with a page in exon 29. List themExon 30: 188,999,285–188,999,383, 99 basesExon 31: 188,999,470–188,999,577, 108 bases. 2 variants with a page in exon 31. List themExon 32: 188,999,842–188,999,895, 54 bases. 1 variant with a page in exon 32. List themExon 33: 189,001,397–189,001,450, 54 bases. 1 variant with a page in exon 33. List themExon 34: 189,001,536–189,001,589, 54 bases. 2 variants with a page in exon 34. List themExon 35: 189,002,298–189,002,351, 54 basesExon 36: 189,002,955–189,003,062, 108 bases. 1 variant with a page in exon 36. List themExon 37: 189,003,411–189,003,464, 54 bases. 1 variant with a page in exon 37. List themExon 38: 189,003,734–189,003,787, 54 bases. 1 variant with a page in exon 38. List themExon 39: 189,003,982–189,004,143, 162 bases. 2 variants with a page in exon 39. List themExon 40: 189,004,257–189,004,364, 108 bases. 1 variant with a page in exon 40. List themExon 41: 189,005,350–189,005,457, 108 bases. 2 variants with a page in exon 41. List themExon 42: 189,006,206–189,006,259, 54 basesExon 43: 189,006,345–189,006,452, 108 bases. 3 variants with a page in exon 43. List themExon 44: 189,006,937–189,006,990, 54 bases. 1 variant with a page in exon 44. List themExon 45: 189,007,500–189,007,607, 108 bases. 1 variant with a page in exon 45. List themExon 46: 189,007,885–189,007,938, 54 bases. 1 variant with a page in exon 46. List themExon 47: 189,008,035–189,008,142, 108 bases. 3 variants with a page in exon 47. List themExon 48: 189,008,924–189,009,221, 298 basesExon 49: 189,010,178–189,010,365, 188 basesExon 50: 189,010,648–189,010,890, 243 bases. 2 variants with a page in exon 50. List themExon 51: 189,011,628–189,012,746, 1,119 bases15101520253035404550515′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 5.5 kb of the gene's 38.4 kb; 4,401 of those bases code for the protein.

How a genome test reads COL3A1

485

positions in COL3A1 where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 38.4 kb of COL3A1, introns included, not only the 5.5 kb of exons.

Variants with a page (70)

The COL3A1 variants with a page here, most review stars first. Each page describes ClinVar's public record of the variant, never a result.

VariantExon or intronPosition (GRCh38)ClinVar classificationReview status
c.80-2A>TIntron 1188,984,758Likely pathogenic2 stars out of 4 criteria provided, multiple submitters, no conflicts
c.636+5G>AIntron 7188,988,648Pathogenic2 stars out of 4 criteria provided, multiple submitters, no conflicts
c.691-2A>GIntron 8188,990,094Pathogenic2 stars out of 4 criteria provided, multiple submitters, no conflicts
c.852+2T>CIntron 11188,991,059Likely pathogenic2 stars out of 4 criteria provided, multiple submitters, no conflicts
c.897+1G>AIntron 12188,991,532Pathogenic/likely pathogenic2 stars out of 4 criteria provided, multiple submitters, no conflicts
c.1348-2A>GIntron 19188,994,722Pathogenic/likely pathogenic2 stars out of 4 criteria provided, multiple submitters, no conflicts
c.1509+2T>CIntron 21188,995,101Likely pathogenic2 stars out of 4 criteria provided, multiple submitters, no conflicts
c.1662+1G>AIntron 23188,996,179Pathogenic2 stars out of 4 criteria provided, multiple submitters, no conflicts
c.2823+1G>AIntron 39189,004,144Pathogenic2 stars out of 4 criteria provided, multiple submitters, no conflicts
c.3417+1G>AIntron 46189,007,939Pathogenic2 stars out of 4 criteria provided, multiple submitters, no conflicts

See all 70 COL3A1 variants →

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). COL3A1 gene: collagen type III alpha 1 chain. Retrieved 16 October 2026, from https://dantelabs.com/genes/col3a1

Vancouver

Dante Labs. COL3A1 gene: collagen type III alpha 1 chain [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/col3a1

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