Gene TPO 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: TPO
Disorder: Thyroid dyshormonogenesis 2A
Allele Frequency: 0.00628141
Carrier Rate: 0.0124839
Max At-Risk Couples rate: 0.000155848
The table below lists all clinically relevant variants identified in the TPO gene based on the Emirati cohort dataset.
| id |
Chromosome Position |
Gene Name |
HGVS c. (Clinically Relevant) |
HGVS p. (Clinically Relevant) |
Allele Count |
Allele Frequency |
| 27 |
1507755 |
TPO |
NM_000547.6:c.2422delT |
NP_000538.3:p.Cys808Alafs*24 |
11 |
0.004606% |
| 574 |
1491591 |
TPO |
NM_000547.6:c.1598-2A>G |
|
1 |
0.000419% |
| 575 |
1491613 |
TPO |
NM_000547.6:c.1618C>T |
NP_000538.3:p.Arg540Ter |
1 |
0.000419% |
| 576 |
1497573 |
TPO |
NM_000547.6:c.1769-1G>A |
|
1 |
0.000419% |
| 579 |
1546191 |
TPO |
NM_000547.6:c.2749-2A>G |
|
1 |
0.000419% |
