Gene DPYD 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: DPYD
Disorder: Dihydropyrimidine dehydrogenase deficiency
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 DPYD gene based on the Emirati cohort dataset.
| id |
Chromosome Position |
Gene Name |
HGVS c. (Clinically Relevant) |
HGVS p. (Clinically Relevant) |
Allele Count |
Allele Frequency |
| 104 |
98206012 |
DPYD |
NM_000110.4:c.257C>T |
NP_000101.2:p.Pro86Leu |
3 |
0.001256% |
| 353 |
97544567 |
DPYD |
NM_000110.4:c.3043A>T |
NP_000101.2:p.Arg1015Ter |
1 |
0.000419% |
| 354 |
97839117 |
DPYD |
NM_000110.4:c.2043_2058del |
NP_000101.2:p.Leu682Ilefs*24 |
1 |
0.000419% |
