Gene PEPD 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: PEPD
Disorder: Prolidase deficiency
Allele Frequency: 0.00125628
Carrier Rate: 0.00250941
Max At-Risk Couples rate: 0.0000063
The table below lists all clinically relevant variants identified in the PEPD gene based on the Emirati cohort dataset.
| id |
Chromosome Position |
Gene Name |
HGVS c. (Clinically Relevant) |
HGVS p. (Clinically Relevant) |
Allele Count |
Allele Frequency |
| 561 |
33882203 |
PEPD |
NM_000285.4:c.1150G>T |
NP_000276.2:p.Glu384Ter |
1 |
0.000419% |
| 562 |
33892769 |
PEPD |
NM_000285.4:c.825delC |
NP_000276.2:p.Phe275Leufs*46 |
1 |
0.000419% |
| 563 |
33954969 |
PEPD |
NM_000285.4:c.549-1G>A |
|
1 |
0.000419% |
