Gene TTC21B 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: TTC21B
Disorder: Bardet-Biedl syndrome
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 TTC21B gene based on the Emirati cohort dataset.
| id |
Chromosome Position |
Gene Name |
HGVS c. (Clinically Relevant) |
HGVS p. (Clinically Relevant) |
Allele Count |
Allele Frequency |
| 127 |
166806103 |
TTC21B |
NM_024753.5:c.151+2T>C |
|
3 |
0.001256% |
| 241 |
166764295 |
TTC21B |
NM_024753.5:c.2462-1G>A |
|
2 |
0.000838% |
| 582 |
166731298 |
TTC21B |
NM_024753.5:c.3917_3918delTA |
NP_079029.3:p.Ile1306Thrfs*2 |
1 |
0.000419% |
