Gene PKLR 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: PKLR
Disorder: Pyruvate kinase deficiency
Allele Frequency: 0.00753769
Carrier Rate: 0.0149617
Max At-Risk Couples rate: 0.000223854
The table below lists all clinically relevant variants identified in the PKLR gene based on the Emirati cohort dataset.
| id |
Chromosome Position |
Gene Name |
HGVS c. (Clinically Relevant) |
HGVS p. (Clinically Relevant) |
Allele Count |
Allele Frequency |
| 17 |
155261709 |
PKLR |
NM_000298.6:c.1456C>T |
NP_000289.1:p.Arg486Trp |
15 |
0.006281% |
| 149 |
155263229 |
PKLR |
NM_000298.6:c.1269G>A |
NP_000289.1:p.Ala423= |
2 |
0.000838% |
| 311 |
155261703 |
PKLR |
NM_000298.6:c.1462C>T |
NP_000289.1:p.Arg488Ter |
1 |
0.000419% |
