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Gene

CYP1B1

cytochrome P450 family 1 subfamily B member 1

Summary

Cytogenetic location
2p22.2
Coordinates
Chromosome 2: 38,067,509–38,076,151 (GRCh38)
Exons
3 exons across 8.6 kb
Protein
543 amino acids
Also known as
CP1B
Previous symbols
GLC3A
MANE Select transcript
ENST00000610745.5NM_000104.4
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

  • Glaucoma

    • Increased pressure in the eyeball due to obstruction of the outflow of aqueous humor.

      • ClinGen rates the link definitive
      • 5 GenCC submitters rate it definitive or strong
      What knowing changes

      IOP-lowering drops (prostaglandin analogs, beta-blockers); selective laser trabeculoplasty; MIGS surgery; trabeculotomy/goniotomy for congenital glaucoma; cascade family genetic testing; annual IOP monitoring for carriers

How CYP1B1 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 CYP1B1 sits. CYP1B1 and 4 genes near it on chromosome 2, from 37,571,830 to 38,571,829.Chromosome 22p22.2p25.3p25.2p25.1p24.3p24.2p24.1p23.3p23.2p23.1p22.3p22.2p22.1p21p16.3p16.2p16.1p15p14p13.3p13.2p13.1p12p11.2p11.1q11.1q11.2q12.1q12.2q12.3q13q14.1q14.2q14.3q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.3q31.1q31.2q31.3q32.1q32.2q32.3q33.1q33.2q33.3q34q35q36.1q36.2q36.3q37.1q37.2q37.337.6 Mb37.8 Mb38 Mb38.2 Mb38.4 MbCDC42EP3: 37,641,882–37,738,468, reverse strandCDC42EP3RMDN2: 37,923,187–38,067,142, forward strandRMDN2CYP1B1: 38,067,509–38,076,151, reverse strandCYP1B1ATL2: 38,293,942–38,377,438, reverse strandATL2HNRNPLL: 38,561,891–38,603,586, reverse strandHNRNPLLDiagram of CYP1B1: 3 exons on the reverse strand of chromosome 2Exon 3: 44 known disease-causing sitesExon 2: 61 known disease-causing sitesExon 3: 38,067,509–38,071,310, 3,802 bases. 19 variants with a page in exon 3. List themExon 2: 38,074,346–38,075,389, 1,044 bases. 15 variants with a page in exon 2. List themExon 1: 38,075,780–38,076,151, 372 bases3215′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 5.2 kb of the gene's 8.6 kb; 1,632 of those bases code for the protein.

How a genome test reads CYP1B1

110

positions in CYP1B1 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 8.6 kb of CYP1B1, introns included, not only the 5.2 kb of exons.

Variants with a page (36)

The CYP1B1 variants with a page here, most review stars first. Each page describes ClinVar's public record of the variant, never a result.

VariantHGVS c.Exon or intronPosition (GRCh38)ClinVar classificationReview status
A106Dc.317C>AExon 238,075,072Pathogenic3 stars out of 4 reviewed by expert panel
A179Rfs*18c.535delExon 238,074,853Pathogenic3 stars out of 4 reviewed by expert panel
A237Ec.710C>AExon 238,074,679Likely pathogenic3 stars out of 4 reviewed by expert panel
A330Fc.988_989delinsTTExon 238,074,400Likely pathogenic3 stars out of 4 reviewed by expert panel
c.2T>CExon 238,075,387Pathogenic3 stars out of 4 reviewed by expert panel
c.1044-1G>CIntron 238,071,311Pathogenic3 stars out of 4 reviewed by expert panel
c.1044-2A>GIntron 238,071,312Pathogenic3 stars out of 4 reviewed by expert panel
C470Yc.1409G>AExon 338,070,945Likely pathogenic3 stars out of 4 reviewed by expert panel
D374Nc.1120G>AExon 338,071,234Likely pathogenic3 stars out of 4 reviewed by expert panel
E173Xc.517G>TExon 238,074,872Pathogenic3 stars out of 4 reviewed by expert panel

See all 36 CYP1B1 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.). CYP1B1 gene: cytochrome P450 family 1 subfamily B member 1. Retrieved 16 October 2026, from https://dantelabs.com/genes/cyp1b1

Vancouver

Dante Labs. CYP1B1 gene: cytochrome P450 family 1 subfamily B member 1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/cyp1b1

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