Gene DNAH5 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: DNAH5
Disorder: Primary ciliary dyskinesia
Allele Frequency: 0.00251256
Carrier Rate: 0.0050125
Max At-Risk Couples rate: 0.0000251
The table below lists all clinically relevant variants identified in the DNAH5 gene based on the Emirati cohort dataset.
| id |
Chromosome Position |
Gene Name |
HGVS c. (Clinically Relevant) |
HGVS p. (Clinically Relevant) |
Allele Count |
Allele Frequency |
| 138 |
13920594 |
DNAH5 |
NM_001369.3:c.793G>T |
NP_001360.1:p.Glu265Ter |
3 |
0.001256% |
| 699 |
13786336 |
DNAH5 |
NM_001369.3:c.8772delC |
NP_001360.1:p.Gly2925Alafs*14 |
1 |
0.000419% |
| 700 |
13883037 |
DNAH5 |
NM_001369.3:c.3147_3150delACAG |
NP_001360.1:p.Arg1049Serfs*43 |
1 |
0.000419% |
| 701 |
13900356 |
DNAH5 |
NM_001369.3:c.2218C>T |
NP_001360.1:p.Gln740Ter |
1 |
0.000419% |
