AVDB

Gene SGCG 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: SGCG

Disorder: Muscular dystrophy, limb girdle

Allele Frequency: 0.0134003

Carrier Rate: 0.0264415

Max At-Risk Couples rate: 0.000699155

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

id Chromosome Position Gene Name HGVS c. (Clinically Relevant) HGVS p. (Clinically Relevant) Allele Count Allele Frequency
6 23894840 SGCG NM_000231.3:c.643delG NP_000222.2:p.Ala215Leufs*65 32 0.0134%