Gene C7 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: C7
Disorder: Alzheimer disease in Han Chinese, association with
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 C7 gene based on the Emirati cohort dataset.
id |
Chromosome Position |
Gene Name |
HGVS c. (Clinically Relevant) |
HGVS p. (Clinically Relevant) |
Allele Count |
Allele Frequency |
55 |
40955530 |
C7 |
NM_000587.4:c.1135G>C |
NP_000578.2:p.Gly379Arg |
6 |
0.002513% |