Gene IL17RA 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: IL17RA
Disorder: IL-17RA deficiency with bacterial and fungal infections
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 IL17RA gene based on the Emirati cohort dataset.
| id |
Chromosome Position |
Gene Name |
HGVS c. (Clinically Relevant) |
HGVS p. (Clinically Relevant) |
Allele Count |
Allele Frequency |
| 132 |
17581248 |
IL17RA |
NM_014339.7:c.427delC |
NP_055154.3:p.Arg143Valfs*17 |
3 |
0.001256% |
| 632 |
17589646 |
IL17RA |
NM_014339.7:c.1537_1553del |
NP_055154.3:p.Val513Argfs*70 |
1 |
0.000419% |
| 633 |
17590382 |
IL17RA |
NM_014339.7:c.2275_2276delAG |
NP_055154.3:p.Leu760Glufs*10 |
1 |
0.000419% |
