Gene MEFV 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: MEFV
Disorder: Neutrophilic dermatosis
Allele Frequency: 0.0305695
Carrier Rate: 0.05927
Max At-Risk Couples rate: 0.00351294
The table below lists all clinically relevant variants identified in the MEFV gene based on the Emirati cohort dataset.
| id |
Chromosome Position |
Gene Name |
HGVS c. (Clinically Relevant) |
HGVS p. (Clinically Relevant) |
Allele Count |
Allele Frequency |
| 2 |
3293257 |
MEFV |
NM_000243.3:c.2230G>T |
p.Ala744Ser |
67 |
0.028057% |
| 85 |
3293310 |
MEFV |
NM_000243.3:c.2177T>C |
NP_000234.1:p.Val726Ala |
4 |
0.001675% |
| 212 |
3293405 |
MEFV |
NM_000243.3:c.2082G>A |
p.Met694Ile |
2 |
0.000838% |
