Gene PKHD1 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: PKHD1
Disorder: Polycystic kidney disease 4
Allele Frequency: 0.0020938
Carrier Rate: 0.00417884
Max At-Risk Couples rate: 0.0000175
The table below lists all clinically relevant variants identified in the PKHD1 gene based on the Emirati cohort dataset.
| id |
Chromosome Position |
Gene Name |
HGVS c. (Clinically Relevant) |
HGVS p. (Clinically Relevant) |
Allele Count |
Allele Frequency |
| 285 |
51875258 |
PKHD1 |
NM_138694.4:c.5601-1G>A |
p.? |
2 |
0.000838% |
| 726 |
51497362 |
PKHD1 |
NM_138694.4:c.11665+1G>A |
|
1 |
0.000419% |
| 727 |
51524072 |
PKHD1 |
NM_138694.4:c.10852delA |
NP_619639.3:p.Arg3618Glufs*8 |
1 |
0.000419% |
| 728 |
51524480 |
PKHD1 |
NM_138694.4:c.10444C>T |
NP_619639.3:p.Arg3482Cys |
1 |
0.000419% |
