Gene DNAH11 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: DNAH11
Disorder: Ciliary dyskinesia
Allele Frequency: 0.00125628
Carrier Rate: 0.00250941
Max At-Risk Couples rate: 0.0000063
The table below lists all clinically relevant variants identified in the DNAH11 gene based on the Emirati cohort dataset.
id |
Chromosome Position |
Gene Name |
HGVS c. (Clinically Relevant) |
HGVS p. (Clinically Relevant) |
Allele Count |
Allele Frequency |
744 |
21582864 |
DNAH11 |
NM_001277115.2:c.1A>G |
NP_001264044.1:p.Met1Val |
1 |
0.000419% |
745 |
21907626 |
DNAH11 |
NM_001277115.1:c.11839+1G>A |
p.? |
1 |
0.000419% |
746 |
21908496 |
DNAH11 |
NM_001277115.2:c.11856dupT |
NP_001264044.1:p.Thr3953Tyrfs*3 |
1 |
0.000419% |