Gene TUBGCP6 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: TUBGCP6
Disorder: Diaphragmatic hernia
Allele Frequency: 0.00125628
Carrier Rate: 0.00250941
Max At-Risk Couples rate: 0.0000063
The table below lists all clinically relevant variants identified in the TUBGCP6 gene based on the Emirati cohort dataset.
| id |
Chromosome Position |
Gene Name |
HGVS c. (Clinically Relevant) |
HGVS p. (Clinically Relevant) |
Allele Count |
Allele Frequency |
| 643 |
50656455 |
TUBGCP6 |
NM_020461.4:c.5260C>T |
NP_065194.3:p.Gln1754Ter |
1 |
0.000419% |
| 644 |
50657496 |
TUBGCP6 |
NM_020461.4:c.4626+1G>A |
|
1 |
0.000419% |
| 645 |
50659271 |
TUBGCP6 |
NM_020461.4:c.3516_3517dupGG |
NP_065194.3:p.Glu1173Glyfs*152 |
1 |
0.000419% |
