Gene LINS1 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: LINS1
                      Disorder: Intellectual developmental disorder
                      Allele Frequency: 0.000837521
                      Carrier Rate: 0.00167364
                      Max At-Risk Couples rate: 0.0000028
                       The table below lists all clinically relevant variants identified in the LINS1 gene based on the Emirati cohort dataset.
                        
                        
                            | id | Chromosome Position | Gene Name | HGVS c. (Clinically Relevant) | HGVS p. (Clinically Relevant) | Allele Count | Allele Frequency | 
               
                | 454 | 101109532 | LINS1 | NM_001040616.3:c.2185A>T | NP_001035706.2:p.Lys729Ter | 1 | 0.000419% | 
                              
                | 455 | 101114093 | LINS1 | NM_001040616.3:c.982_985delCATC | NP_001035706.2:p.His328Metfs*2 | 1 | 0.000419% |