Gene TYR 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: TYR
Disorder: Albinism, oculocutaneous
Allele Frequency: 0.00586265
Carrier Rate: 0.0116566
Max At-Risk Couples rate: 0.000135875
The table below lists all clinically relevant variants identified in the TYR gene based on the Emirati cohort dataset.
| id |
Chromosome Position |
Gene Name |
HGVS c. (Clinically Relevant) |
HGVS p. (Clinically Relevant) |
Allele Count |
Allele Frequency |
| 42 |
89017973 |
TYR |
NM_000372.5:c.1217C>T |
NP_000363.1:p.Pro406Leu |
7 |
0.002931% |
| 180 |
88911351 |
TYR |
NM_000372.5:c.230G>A |
NP_000363.1:p.Arg77Gln |
2 |
0.000838% |
| 181 |
88924546 |
TYR |
NM_000372.5:c.996G>A |
NP_000363.1:p.Met332Ile |
2 |
0.000838% |
| 406 |
88911714 |
TYR |
NM_000372.5:c.593T>C |
NP_000363.1:p.Ile198Thr |
1 |
0.000419% |
| 407 |
88911756 |
TYR |
NM_000372.5:c.635G>A |
NP_000363.1:p.Arg212Lys |
1 |
0.000419% |
| 408 |
89017965 |
TYR |
NM_000372.5:c.1209G>T |
NP_000363.1:p.Arg403Ser |
1 |
0.000419% |
