GGH
gamma-glutamyl hydrolase
Summary
This gene catalyzes the hydrolysis of folylpoly-gamma-glutamates and antifolylpoly-gamma-glutamates by the removal of gamma-linked polyglutamates and glutamate. [provided by RefSeq, Jul 2008]
Known Variants34 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs778131378 | 8:63,927,925 | A/G | — | uncertain significance |
| rs963395293 | 8:63,927,965 | C/T | — | uncertain significance |
| rs2487469272 | 8:63,930,054 | T/C | — | uncertain significance |
| rs15073 | 8:63,930,078 | T/G | — | uncertain significance |
| rs776778126 | 8:63,930,108 | T/C | — | uncertain significance |
| rs111541291 | 8:63,930,183 | T/C | — | uncertain significance |
| rs1414265165 | 8:63,930,187 | A/G | — | uncertain significance |
| rs1031552 | 8:63,933,190 | G/C | — | — |
| rs376337326 | 8:63,936,472 | T/C | — | uncertain significance |
| rs777086398 | 8:63,936,475 | T/C | — | uncertain significance |
| rs2487478427 | 8:63,936,658 | T/C | — | uncertain significance |
| rs986960195 | 8:63,936,710 | T/C | — | likely benign |
| rs182166268 | 8:63,938,050 | G/A | downstream gene variant | — |
| rs781250938 | 8:63,938,735 | G/A | — | uncertain significance |
| rs375675000 | 8:63,938,749 | A/G | — | uncertain significance |
| rs772522729 | 8:63,938,752 | G/A | — | uncertain significance |
| rs11545078 | 8:63,938,764 | G/A | missense variant | — |
| rs547411787 | 8:63,939,796 | G/C | — | uncertain significance |
| rs3780129 | 8:63,940,962 | C/T | downstream gene variant | — |
| rs3824333 | 8:63,941,217 | T/C | downstream gene variant | — |
| rs4617146 | 8:63,942,717 | C/T | downstream gene variant | — |
| rs114664885 | 8:63,942,733 | T/C | — | benign |
| rs369357967 | 8:63,948,260 | T/C | — | uncertain significance |
| rs11786893 | 8:63,948,265 | C/T | synonymous variant | benign |
| rs3780126 | 8:63,949,912 | G/A | intron variant | — |
| rs11545077 | 8:63,951,237 | C/A | missense variant | — |
| rs772951871 | 8:63,951,251 | G/T | — | uncertain significance |
| rs748715651 | 8:63,951,311 | C/T | — | uncertain significance |
| rs1800909 | 8:63,951,312 | A/G | missense variant | — |
| rs773716886 | 8:63,951,315 | C/T | — | uncertain significance |
| rs11545076 | 8:63,951,451 | A/C | regulatory region variant | — |
| rs719235 | 8:63,951,681 | C/T | — | — |
| rs3758149 | 8:63,951,728 | G/A | regulatory region variant | — |
| rs3758147 | 8:63,952,006 | G/A | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.