Gene CUL7 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: CUL7
Disorder: 3-M syndrome 1
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 CUL7 gene based on the Emirati cohort dataset.
| id |
Chromosome Position |
Gene Name |
HGVS c. (Clinically Relevant) |
HGVS p. (Clinically Relevant) |
Allele Count |
Allele Frequency |
| 723 |
43007910_43007911ins |
CUL7 |
NM_014780.5:c.4277_4278insG |
p.Asn1427Glnfs*13 |
1 |
0.000419% |
| 724 |
43013351 |
CUL7 |
NM_014780.5:c.2836C>T |
p.Gln946* |
1 |
0.000419% |
