Gene CYP1B1 Details
It offers a comprehensive overview of all clinically relevant variants linked to a specified gene. It provides detailed metrics for each variant, including chromosomal position, HGVS c. and p. notation, allele frequencies, carrier rates, and estimated metrics for at-risk couples. By combining gene-level statistics with specific variant-level data, this page enables an in-depth analysis of how particular genes contribute to disease, thus supporting both clinical interpretation and research efforts.
Gene: CYP1B1
Disorder: Glaucoma 3A
Allele Frequency: 0.0113065
Carrier Rate: 0.0223574
Max At-Risk Couples rate: 0.000499853
The table below lists all clinically relevant variants identified in the CYP1B1 gene based on the Emirati cohort dataset.
| id |
Chromosome Position |
Gene Name |
HGVS c. (Clinically Relevant) |
HGVS p. (Clinically Relevant) |
Allele Count |
Allele Frequency |
| 12 |
38302350 |
CYP1B1 |
NM_000104.4:c.182G>A |
NP_000095.2:p.Gly61Glu |
22 |
0.009213% |
| 92 |
38298377 |
CYP1B1 |
NM_000104.4:c.1120G>A |
p.Asp374Asn |
4 |
0.001675% |
| 605 |
38301664 |
CYP1B1 |
NM_000104.4:c.868dupC |
NP_000095.2:p.Arg290Profs*37 |
1 |
0.000419% |
