| Gene ID | 8836 |
| Symbol | GGH |
| Synonymous | GH |
| Full name | gamma-glutamyl hydrolase (conjugase, folylpolygammaglutamyl hydrolase) |
| Gene description | gamma-Glu-X carboxypeptidase|gamma-glutamyl hydrolase |
| Cytoband | 8q12.3 |
| Gene type | protein-coding |
| Synonymous | MIM:601509; HGNC:HGNC:4248; Ensembl:ENSG00000137563; HPRD:03299; Vega:OTTHUMG00000164365 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.284T>C; p.F95S; 8:63027257-63027257 |
skin | malignant_melanoma | Substitution - Missense |
c.247T>A; p.Y83N; 8:63030195-63030195 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.790G>T; p.A264S; 8:63017538-63017538 |
pancreas | carcinoma | Substitution - Missense |
c.616A>G; p.M206V; 8:63023988-63023988 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.471C>T; p.D157D; 8:63026186-63026186 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.323C>G; p.A108G; 8:63027218-63027218 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.306C>G; p.L102L; 8:63027235-63027235 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.875A>T; p.E292V; 8:63015414-63015414 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.875A>T; p.E292V; 8:63015414-63015414 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.157A>G; p.R53G; 8:63035723-63035723 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.479T>C; p.M160T; 8:63026178-63026178 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.240G>A; p.E80E; 8:63030202-63030202 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.248_249delAT; p.Y83fs*1; 8:63030193-63030194 |
liver | carcinoma; hepatocellular_carcinoma | Deletion - Frameshift |
c.834A>G; p.E278E; 8:63017494-63017494 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.600C>T; p.S200S; 8:63024086-63024086 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.794T>C; p.V265A; 8:63017534-63017534 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.577A>G; p.N193D; 8:63024109-63024109 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.883G>C; p.A295P; 8:63015406-63015406 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.907A>T; p.I303F; 8:63015382-63015382 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.16T>C; p.C6R; 8:63038753-63038753 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.16T>C; p.C6R; 8:63038753-63038753 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.16T>C; p.C6R; 8:63038753-63038753 |
thyroid | other; neoplasm | Substitution - Missense |
c.16T>C; p.C6R; 8:63038753-63038753 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.891T>G; p.I297M; 8:63015398-63015398 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.408delA; p.F137fs*7; 8:63026249-63026249 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.92C>T; p.A31V; 8:63038677-63038677 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.74G>A; p.R25K; 8:63038695-63038695 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.91G>A; p.A31T; 8:63038678-63038678 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.91G>A; p.A31T; 8:63038678-63038678 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.91G>A; p.A31T; 8:63038678-63038678 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.91G>A; p.A31T; 8:63038678-63038678 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.91G>A; p.A31T; 8:63038678-63038678 |
thyroid | other; neoplasm | Substitution - Missense |
c.387_388insC; p.V130fs*9; 8:63026269-63026270 |
liver | carcinoma | Insertion - Frameshift |
c.35G>A; p.G12D; 8:63038734-63038734 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.289G>T; p.G97*; 8:63027252-63027252 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.929C>T; p.S310L; 8:63015360-63015360 |
skin | malignant_melanoma | Substitution - Missense |
c.836-8delT; p.?; 8:63015461-63015461 |
stomach | adenocarcinoma | Unknown |
c.763T>C; p.L255L; 8:63017565-63017565 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.797A>G; p.K266R; 8:63017531-63017531 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.705G>A; p.K235K; 8:63017623-63017623 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.482C>T; p.P161L; 8:63026175-63026175 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.174G>A; p.A58A; 8:63035706-63035706 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.507G>T; p.L169F; 8:63024179-63024179 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.452C>T; p.T151I; 8:63026205-63026205 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.452C>T; p.T151I; 8:63026205-63026205 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.449T>C; p.L150S; 8:63026208-63026208 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.502C>G; p.Q168E; 8:63024184-63024184 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.98A>T; p.K33M; 8:63038671-63038671 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.98A>T; p.K33M; 8:63038671-63038671 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.184A>T; p.K62*; 8:63035696-63035696 |
skin; mucosal | malignant_melanoma | Substitution - Nonsense |
c.140T>C; p.V47A; 8:63035740-63035740 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.902G>T; p.S301I; 8:63015387-63015387 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.874G>T; p.E292*; 8:63015415-63015415 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.460G>A; p.D154N; 8:63026197-63026197 |
breast | carcinoma | Substitution - Missense |
c.873A>C; p.E291D; 8:63015416-63015416 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.873A>C; p.E291D; 8:63015416-63015416 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.275+9G>A; p.?; 8:63030158-63030158 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Unknown |
c.173C>T; p.A58V; 8:63035707-63035707 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.353C>T; p.S118F; 8:63027188-63027188 |
skin | malignant_melanoma | Substitution - Missense |
c.221T>C; p.V74A; 8:63035659-63035659 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.310C>T; p.R104C; 8:63027231-63027231 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.879G>A; p.E293E; 8:63015410-63015410 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.310C>T; p.R104C; 8:63027231-63027231 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.323C>T; p.A108V; 8:63027218-63027218 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.323C>T; p.A108V; 8:63027218-63027218 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.323C>T; p.A108V; 8:63027218-63027218 |
large_intestine; colon | carcinoma | Substitution - Missense |
c.323C>T; p.A108V; 8:63027218-63027218 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.751G>A; p.E251K; 8:63017577-63017577 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.911A>T; p.Y304F; 8:63015378-63015378 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.177C>T; p.S59S; 8:63035703-63035703 |
skin | malignant_melanoma | Substitution - coding silent |