AVDB

Gene CHRNG 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: CHRNG

Disorder: Multiple pterygium syndrome

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 CHRNG gene based on the Emirati cohort dataset.

id Chromosome Position Gene Name HGVS c. (Clinically Relevant) HGVS p. (Clinically Relevant) Allele Count Allele Frequency
245 233405097 CHRNG NM_005199.5:c.202C>T NP_005190.4:p.Arg68Ter 2 0.000838%