Gene ABCG8 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: ABCG8
Disorder: Sitosterolemia 1
Allele Frequency: 0.0041876
Carrier Rate: 0.00834014
Max At-Risk Couples rate: 0.0000696
The table below lists all clinically relevant variants identified in the ABCG8 gene based on the Emirati cohort dataset.
| id |
Chromosome Position |
Gene Name |
HGVS c. (Clinically Relevant) |
HGVS p. (Clinically Relevant) |
Allele Count |
Allele Frequency |
| 38 |
44099114 |
ABCG8 |
NM_022437.3:c.965-1G>C |
p.? |
8 |
0.00335% |
| 606 |
44066194 |
ABCG8 |
NM_022437.3:c.2T>C |
NP_071882.1:p.Met1Thr |
1 |
0.000419% |
| 607 |
44078956 |
ABCG8 |
NM_022437.3:c.556A>T |
NP_071882.1:p.Lys186Ter |
1 |
0.000419% |
