| Gene ID | 283120 |
| Symbol | H19 |
| Synonymous | ASM|ASM1|BWS|D11S813E|LINC00008|NCRNA00008|WT2 |
| Full name | H19, imprinted maternally expressed transcript (non-protein coding) |
| Gene description | H19, imprinted maternally expressed untranslated mRNA|long intergenic non-protein coding RNA 8 |
| Cytoband | 11p15.5 |
| Gene type | ncRNA |
| Synonymous | MIM:103280; HGNC:HGNC:4713; Ensembl:ENSG00000130600 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.131G>C; p.R44T; 11:1997087-1997087 |
breast | carcinoma | Substitution - Missense |
c.436_437delTG; p.C146fs*28; 11:1996781-1996782 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.329G>A; p.R110H; 11:1996889-1996889 |
pancreas | carcinoma | Substitution - Missense |
c.153C>G; p.L51L; 11:1997065-1997065 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.359C>T; p.A120V; 11:1996859-1996859 |
pancreas | carcinoma | Substitution - Missense |
c.701C>G; p.A234G; 11:1996421-1996421 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.490G>A; p.G164R; 11:1996728-1996728 |
liver | carcinoma | Substitution - Missense |
c.280G>A; p.V94I; 11:1996938-1996938 |
breast | carcinoma | Substitution - Missense |