AVDB

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%