Gene CYP27A1 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: CYP27A1
Disorder: Cerebrotendinous xanthomatosis
Allele Frequency: 0.000837521
Carrier Rate: 0.00167364
Max At-Risk Couples rate: 0.0000028
The table below lists all clinically relevant variants identified in the CYP27A1 gene based on the Emirati cohort dataset.
| id |
Chromosome Position |
Gene Name |
HGVS c. (Clinically Relevant) |
HGVS p. (Clinically Relevant) |
Allele Count |
Allele Frequency |
| 592 |
219677436 |
CYP27A1 |
NM_000784.4:c.808C>T |
NP_000775.1:p.Arg270Ter |
1 |
0.000419% |
| 593 |
219678911 |
CYP27A1 |
NM_000784.4:c.1184+1G>A |
|
1 |
0.000419% |
