AVDB

Gene SLC39A14 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: SLC39A14

Disorder: ?Hyperostosis cranalis interna

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 SLC39A14 gene based on the Emirati cohort dataset.

id Chromosome Position Gene Name HGVS c. (Clinically Relevant) HGVS p. (Clinically Relevant) Allele Count Allele Frequency
768 22273273 SLC39A14 NM_001128431.4:c.751-9C>G p.? 1 0.000419%