Gene UPB1 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: UPB1
Disorder: Beta-ureidopropionase deficiency
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 UPB1 gene based on the Emirati cohort dataset.
| id |
Chromosome Position |
Gene Name |
HGVS c. (Clinically Relevant) |
HGVS p. (Clinically Relevant) |
Allele Count |
Allele Frequency |
| 46 |
24896073 |
UPB1 |
NM_016327.3:c.105-2A>G |
|
7 |
0.002931% |
| 260 |
24909368 |
UPB1 |
NM_016327.3:c.537_538delTA |
NP_057411.1:p.Thr180Serfs*24 |
2 |
0.000838% |
| 636 |
24916437 |
UPB1 |
NM_016327.3:c.873+1G>A |
|
1 |
0.000419% |
