| Gene ID | 3159 |
| Symbol | HMGA1 |
| Synonymous | HMG-R|HMGA1A|HMGIY |
| Full name | high mobility group AT-hook 1 |
| Gene description | HMG-I(Y)|high mobility group protein A1|high mobility group protein HMG-I/HMG-Y|high mobility group protein R|high-mobility group (nonhistone chromosomal) protein isoforms I and Y|nonhistone chromosomal high-mobility group protein HMG-I/HMG-Y |
| Cytoband | 6p21 |
| Gene type | protein-coding |
| Synonymous | MIM:600701; HGNC:HGNC:5010; Ensembl:ENSG00000137309; HPRD:02829; Vega:OTTHUMG00000014539 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.204T>C; p.G68G; 6:34242780-34242780 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.172C>T; p.R58W; 6:34242748-34242748 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.57C>T; p.D19D; 6:34240837-34240837 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.219G>A; p.R73R; 6:34242795-34242795 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - coding silent |
c.118G>A; p.A40T; 6:34240898-34240898 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.18G>A; p.S6S; 6:34240798-34240798 |
breast | carcinoma | Substitution - coding silent |
c.64G>C; p.E22Q; 6:34240844-34240844 |
urinary_tract; bladder | carcinoma | Substitution - Missense |