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% |