Gene MPL 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: MPL
Disorder: Thrombocytosis, association with
Allele Frequency: 0.00376884
Carrier Rate: 0.00750928
Max At-Risk Couples rate: 0.0000564
The table below lists all clinically relevant variants identified in the MPL gene based on the Emirati cohort dataset.
| id |
Chromosome Position |
Gene Name |
HGVS c. (Clinically Relevant) |
HGVS p. (Clinically Relevant) |
Allele Count |
Allele Frequency |
| 30 |
43804317 |
MPL |
NM_005373.3:c.317C>T |
NP_005364.1:p.Pro106Leu |
9 |
0.003769% |
