Gene FAH 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: FAH
Disorder: Tyrosinemia
Allele Frequency: 0.00167504
Carrier Rate: 0.00334447
Max At-Risk Couples rate: 0.0000112
The table below lists all clinically relevant variants identified in the FAH gene based on the Emirati cohort dataset.
| id |
Chromosome Position |
Gene Name |
HGVS c. (Clinically Relevant) |
HGVS p. (Clinically Relevant) |
Allele Count |
Allele Frequency |
| 117 |
80472572 |
FAH |
NM_000137.4:c.1062+5G>A |
p.? |
3 |
0.001256% |
| 477 |
80465431 |
FAH |
NM_000137.4:c.782C>T |
NP_000128.1:p.Pro261Leu |
1 |
0.000419% |
