PGD
phosphogluconate dehydrogenase
Summary
6-phosphogluconate dehydrogenase is the second dehydrogenase in the pentose phosphate shunt. Deficiency of this enzyme is generally asymptomatic, and the inheritance of this disorder is autosomal dominant. Hemolysis results from combined deficiency of 6-phosphogluconate dehydrogenase and 6-phosphogluconolactonase suggesting a synergism of the two enzymopathies. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2015]
Known Variants28 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1254873810 | 1:10,460,474 | T/C | — | uncertain significance |
| rs369884533 | 1:10,460,615 | T/G | — | uncertain significance |
| rs142871528 | 1:10,460,626 | A/T | — | uncertain significance |
| rs768286066 | 1:10,464,306 | C/T | — | uncertain significance |
| rs2522148608 | 1:10,468,151 | A/C | — | uncertain significance |
| rs773274407 | 1:10,468,165 | A/G | — | uncertain significance |
| rs72867467 | 1:10,470,175 | C/T | intron variant | — |
| rs1247773755 | 1:10,471,502 | G/A | — | not provided |
| rs2522172811 | 1:10,473,161 | A/G | — | uncertain significance |
| rs79502417 | 1:10,473,199 | C/T | — | benign |
| rs2229688 | 1:10,473,200 | G/T | missense variant | — |
| rs1639529378 | 1:10,473,269 | A/G | — | uncertain significance |
| rs200238924 | 1:10,473,286 | C/T | — | likely benign |
| rs2522190202 | 1:10,477,100 | A/G | — | uncertain significance |
| rs150118858 | 1:10,477,441 | C/T | — | benign |
| rs367589034 | 1:10,477,499 | G/A | — | uncertain significance |
| rs761910938 | 1:10,477,509 | G/C | — | uncertain significance |
| rs773757294 | 1:10,477,518 | A/G | — | uncertain significance |
| rs759755207 | 1:10,477,540 | G/A | — | uncertain significance |
| rs2522193520 | 1:10,477,551 | G/A | — | uncertain significance |
| rs2522193571 | 1:10,477,561 | T/G | — | uncertain significance |
| rs371087028 | 1:10,478,884 | G/C | — | uncertain significance |
| rs201124379 | 1:10,478,897 | A/G | — | uncertain significance |
| rs930964915 | 1:10,478,901 | A/G | — | uncertain significance |
| rs759462109 | 1:10,479,492 | G/A | — | likely benign |
| rs372240950 | 1:10,479,553 | A/G | — | uncertain significance |
| rs1450469652 | 1:10,479,728 | G/T | — | uncertain significance |
| rs764447314 | 1:10,479,735 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.