Gene MAPKBP1 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: MAPKBP1
Disorder: Nephronophthisis, late onset
Allele Frequency: 0.00041876
Carrier Rate: 0.00083717
Max At-Risk Couples rate: 0.000000701
The table below lists all clinically relevant variants identified in the MAPKBP1 gene based on the Emirati cohort dataset.
| id |
Chromosome Position |
Gene Name |
HGVS c. (Clinically Relevant) |
HGVS p. (Clinically Relevant) |
Allele Count |
Allele Frequency |
| 458 |
42107552 |
MAPKBP1 |
NM_001128608.2:c.1288_1289delAG |
NP_001122080.1:p.Ser430Leufs*16 |
1 |
0.000419% |
