Gene AGXT 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: AGXT
Disorder: Hyperoxaluria
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 AGXT gene based on the Emirati cohort dataset.
| id |
Chromosome Position |
Gene Name |
HGVS c. (Clinically Relevant) |
HGVS p. (Clinically Relevant) |
Allele Count |
Allele Frequency |
| 246 |
241810808 |
AGXT |
NM_000030.3:c.466G>A |
p.Gly156Arg |
2 |
0.000838% |
| 597 |
241808389 |
AGXT |
NM_000030.3:c.107G>A |
NP_000021.1:p.Arg36His |
1 |
0.000419% |
| 598 |
241808663 |
AGXT |
NM_000030.3:c.242C>T |
NP_000021.1:p.Ser81Leu |
1 |
0.000419% |
