AVDB

Gene PEX26 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: PEX26

Disorder: Refsum disease, infantile

Allele Frequency: 0.00041876

Carrier Rate: 0.00083717

Max At-Risk Couples rate: 0.000000701

The table below lists all clinically relevant variants identified in the PEX26 gene based on the Emirati cohort dataset.

id Chromosome Position Gene Name HGVS c. (Clinically Relevant) HGVS p. (Clinically Relevant) Allele Count Allele Frequency
635 18562701 PEX26 NM_017929.6:c.292C>T NP_060399.1:p.Arg98Trp 1 0.000419%