Gene NR2E3 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: NR2E3
Disorder: Retinitis pigmentosa 37
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 NR2E3 gene based on the Emirati cohort dataset.
| id |
Chromosome Position |
Gene Name |
HGVS c. (Clinically Relevant) |
HGVS p. (Clinically Relevant) |
Allele Count |
Allele Frequency |
| 68 |
72105907 |
NR2E3 |
NM_014249.4:c.926G>T |
NP_055064.1:p.Arg309Leu |
5 |
0.002094% |
| 206 |
72105913 |
NR2E3 |
NM_014249.3:c.932G>A |
p.Arg311Gln |
2 |
0.000838% |
