Gene CYP11B1 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: CYP11B1
Disorder: Steroid-11 beta-hydroxylase deficiency
Allele Frequency: 0.00167504
Carrier Rate: 0.00334447
Max At-Risk Couples rate: 0.0000112
The table below lists all clinically relevant variants identified in the CYP11B1 gene based on the Emirati cohort dataset.
| id |
Chromosome Position |
Gene Name |
HGVS c. (Clinically Relevant) |
HGVS p. (Clinically Relevant) |
Allele Count |
Allele Frequency |
| 145 |
143956670 |
CYP11B1 |
NM_000497.4:c.1179_1180dupGA |
NP_000488.3:p.Asn394Argfs*37 |
3 |
0.001256% |
| 764 |
143958607 |
CYP11B1 |
NM_000497.4:c.427C>T |
NP_000488.3:p.Arg143Trp |
1 |
0.000419% |
