Gene EYS 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: EYS
Disorder: Retinitis pigmentosa
Allele Frequency: 0.00628141
Carrier Rate: 0.0124839
Max At-Risk Couples rate: 0.000155848
The table below lists all clinically relevant variants identified in the EYS gene based on the Emirati cohort dataset.
| id |
Chromosome Position |
Gene Name |
HGVS c. (Clinically Relevant) |
HGVS p. (Clinically Relevant) |
Allele Count |
Allele Frequency |
| 48 |
65098611 |
EYS |
NM_001142800.2:c.6050G>T |
NP_001136272.1:p.Gly2017Val |
7 |
0.002931% |
| 141 |
66205272 |
EYS |
NM_001142800.2:c.32dupT |
NP_001136272.1:p.Met12Aspfs*14 |
3 |
0.001256% |
| 729 |
64709008 |
EYS |
NM_001142800.2:c.6794delC |
NP_001136272.1:p.Pro2265Glnfs*46 |
1 |
0.000419% |
| 730 |
64940718 |
EYS |
NM_001142800.2:c.6192-1G>T |
|
1 |
0.000419% |
| 731 |
65301424 |
EYS |
NM_001142800.2:c.4336delC |
NP_001136272.1:p.Arg1446Valfs*6 |
1 |
0.000419% |
| 732 |
65523270 |
EYS |
NM_001142800.2:c.3443+1G>T |
|
1 |
0.000419% |
| 733 |
66094367 |
EYS |
NM_001142800.2:c.1211dupA |
NP_001136272.1:p.Asn404Lysfs*3 |
1 |
0.000419% |
