AVDB

Gene LAMA1 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: LAMA1

Disorder: Schizophrenia

Allele Frequency: 0.00376884

Carrier Rate: 0.00750928

Max At-Risk Couples rate: 0.0000564

The table below lists all clinically relevant variants identified in the LAMA1 gene based on the Emirati cohort dataset.

id Chromosome Position Gene Name HGVS c. (Clinically Relevant) HGVS p. (Clinically Relevant) Allele Count Allele Frequency
88 7038921 LAMA1 NM_005559.4:c.1451_1452insGG NP_005550.2:p.Cys485Alafs*9 4 0.001675%
89 7038945 LAMA1 NM_005559.4:c.1427delinsCGG NP_005550.2:p.Asn476Thrfs*18 4 0.001675%
553 7042217 LAMA1 NM_005559.4:c.1188dupC NP_005550.2:p.Cys397Leufs*2 1 0.000419%