Gene TRIP4 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: TRIP4
Disorder: Spinal muscular atrophy & congenital bone fractures
Allele Frequency: 0.00293132
Carrier Rate: 0.00584546
Max At-Risk Couples rate: 0.0000342
The table below lists all clinically relevant variants identified in the TRIP4 gene based on the Emirati cohort dataset.
| id |
Chromosome Position |
Gene Name |
HGVS c. (Clinically Relevant) |
HGVS p. (Clinically Relevant) |
Allele Count |
Allele Frequency |
| 203 |
64689850 |
TRIP4 |
NM_016213.5:c.452delA |
NP_057297.2:p.Asn151Ilefs*35 |
2 |
0.000838% |
| 204 |
64689980 |
TRIP4 |
NM_016213.5:c.582delA |
NP_057297.2:p.Glu195Lysfs*33 |
2 |
0.000838% |
| 205 |
64690014 |
TRIP4 |
NM_016213.5:c.615delT |
NP_057297.2:p.Leu206Trpfs*22 |
2 |
0.000838% |
| 474 |
64706396 |
TRIP4 |
NM_016213.5:c.1156C>T |
NP_057297.2:p.Gln386Ter |
1 |
0.000419% |
