Gene EVC2 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: EVC2
Disorder: Ellis-van Creveld syndrome
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 EVC2 gene based on the Emirati cohort dataset.
| id |
Chromosome Position |
Gene Name |
HGVS c. (Clinically Relevant) |
HGVS p. (Clinically Relevant) |
Allele Count |
Allele Frequency |
| 690 |
5642240 |
EVC2 |
NM_147127.5:c.1470+1G>A |
|
1 |
0.000419% |
| 691 |
5683013 |
EVC2 |
NM_147127.5:c.844dupT |
NP_667338.3:p.Ser282Phefs*59 |
1 |
0.000419% |
