Gene GNRHR 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: GNRHR
Disorder: Hypogonadotropic hypogonadism
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 GNRHR gene based on the Emirati cohort dataset.
id |
Chromosome Position |
Gene Name |
HGVS c. (Clinically Relevant) |
HGVS p. (Clinically Relevant) |
Allele Count |
Allele Frequency |
74 |
68619737 |
GNRHR |
NM_000406.3:c.317A>G |
NP_000397.1:p.Gln106Arg |
5 |
0.002094% |
269 |
68606400 |
GNRHR |
NM_000406.3:c.785G>A |
NP_000397.1:p.Arg262Gln |
2 |
0.000838% |