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% |