AVDB

Gene ORC6 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: ORC6

Disorder: Meier-Gorlin syndrome

Allele Frequency: 0.00251256

Carrier Rate: 0.0050125

Max At-Risk Couples rate: 0.0000251

The table below lists all clinically relevant variants identified in the ORC6 gene based on the Emirati cohort dataset.

id Chromosome Position Gene Name HGVS c. (Clinically Relevant) HGVS p. (Clinically Relevant) Allele Count Allele Frequency
53 46729525 ORC6 NM_014321.4:c.507delA NP_055136.1:p.Ala170Leufs*10 6 0.002513%