Gene USH2A 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: USH2A
Disorder: Retinitis Pigmentosa
Allele Frequency: 0.00544389
Carrier Rate: 0.0108285
Max At-Risk Couples rate: 0.000117256
The table below lists all clinically relevant variants identified in the USH2A gene based on the Emirati cohort dataset.
| id |
Chromosome Position |
Gene Name |
HGVS c. (Clinically Relevant) |
HGVS p. (Clinically Relevant) |
Allele Count |
Allele Frequency |
| 153 |
216496836 |
USH2A |
NM_206933.4:c.1530delC |
NP_996816.3:p.Asp510Glufs*81 |
2 |
0.000838% |
| 154 |
216496918 |
USH2A |
NM_206933.4:c.1448delC |
NP_996816.3:p.Thr483Serfs*3 |
2 |
0.000838% |
| 155 |
216496932 |
USH2A |
NM_206933.4:c.1434delG |
NP_996816.3:p.Glu478Aspfs*3 |
2 |
0.000838% |
| 156 |
216496999 |
USH2A |
NM_206933.4:c.1367delT |
NP_996816.3:p.Ile456Thrfs*2 |
2 |
0.000838% |
| 157 |
216497021 |
USH2A |
NM_206933.4:c.1345delC |
NP_996816.3:p.Arg449Valfs*9 |
2 |
0.000838% |
| 327 |
215955539 |
USH2A |
NM_206933.4:c.10586-1G>T |
|
1 |
0.000419% |
| 328 |
216270451 |
USH2A |
NM_206933.4:c.4732C>T |
NP_996816.3:p.Arg1578Cys |
1 |
0.000419% |
| 329 |
216380644 |
USH2A |
NM_206933.4:c.3280_3287dupTTTGAAAT |
NP_996816.3:p.Tyr1097Leufs*18 |
1 |
0.000419% |
