Gene GNE 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: GNE
Disorder: GNE myopathy
Allele Frequency: 0.0020938
Carrier Rate: 0.00417884
Max At-Risk Couples rate: 0.0000175
The table below lists all clinically relevant variants identified in the GNE gene based on the Emirati cohort dataset.
| id |
Chromosome Position |
Gene Name |
HGVS c. (Clinically Relevant) |
HGVS p. (Clinically Relevant) |
Allele Count |
Allele Frequency |
| 77 |
36217396 |
GNE |
NM_001128227.3:c.2228T>C |
NP_001121699.1:p.Met743Thr |
5 |
0.002094% |
