Gene C6 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: C6
Disorder: Inflammatory bowel disease, very early onset
Allele Frequency: 0.00167504
Carrier Rate: 0.00334447
Max At-Risk Couples rate: 0.0000112
The table below lists all clinically relevant variants identified in the C6 gene based on the Emirati cohort dataset.
| id |
Chromosome Position |
Gene Name |
HGVS c. (Clinically Relevant) |
HGVS p. (Clinically Relevant) |
Allele Count |
Allele Frequency |
| 276 |
41176607 |
C6 |
NM_000065.5:c.1138delC |
NP_000056.2:p.Gln380Serfs*7 |
2 |
0.000838% |
| 707 |
41158865 |
C6 |
NM_000065.5:c.1879delG |
NP_000056.2:p.Asp627Thrfs*4 |
1 |
0.000419% |
| 708 |
41181567 |
C6 |
NM_000065.5:c.821delA |
NP_000056.2:p.Gln274Argfs*46 |
1 |
0.000419% |
