Gene TRIOBP 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: TRIOBP
Disorder: Developmental disorder
Allele Frequency: 0.00251256
Carrier Rate: 0.0050125
Max At-Risk Couples rate: 0.0000251
The table below lists all clinically relevant variants identified in the TRIOBP gene based on the Emirati cohort dataset.
| id |
Chromosome Position |
Gene Name |
HGVS c. (Clinically Relevant) |
HGVS p. (Clinically Relevant) |
Allele Count |
Allele Frequency |
| 261 |
38119191 |
TRIOBP |
NM_001039141.3:c.629-1G>C |
|
2 |
0.000838% |
| 638 |
38120190 |
TRIOBP |
NM_001039141.3:c.1627A>T |
NP_001034230.1:p.Arg543Ter |
1 |
0.000419% |
| 639 |
38120712 |
TRIOBP |
NM_001039141.3:c.2149C>T |
NP_001034230.1:p.Gln717Ter |
1 |
0.000419% |
| 640 |
38131003 |
TRIOBP |
NM_001039141.3:c.4660C>T |
NP_001034230.1:p.Arg1554Ter |
1 |
0.000419% |
| 641 |
38134727 |
TRIOBP |
NM_001039141.3:c.5184+1G>A |
|
1 |
0.000419% |
