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HNF1A
Basic information
- Official gene symbol
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HNF1 homeobox A
- Conventional gene symbol
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HNF-1A, HNF1, HNF4A, IDDM20, LFB1, MODY3, TCF-1, TCF1
- Classification
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Oncogene / Tumor suppressor gene
- Official gene ID
- Transcript ID
- Functional classification
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Transcriptional regulation
- Signaling pathway
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Transcriptional regulation
- Chromosomal location
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12q24.31 (chr12:121416572..121438995)
- Protein length
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631
Chromosome ideogram
Frequency of somatic alterationsTumor type
Base substitutions, insertions, and deletions
Copy number alterations
Distribution of tumor mutation burdenTMB
List of driver somatic mutations
| Genomic Coordinates (GRCh37/hg19) | Reference | Variant | Exon | Amino Acid change | Coding DNA change | COSMIC (v92) | Classification | No. of Samples |
|---|---|---|---|---|---|---|---|---|
| chr12:121426817 | C | T | 2 / 10 | p.Q170* | c.508C>T | Tier2 | 1 / 57 | |
| chr12:121431457 | C | T | 3 / 10 | p.Q221* | c.661C>T | COSV104379782 | Tier2 | 1 / 57 |
| chr12:121432139 | G | T | 4 / 10 | p.G296* | c.886G>T | COSV57466755 | Tier2 | 1 / 57 |
| chr12:121432153 | CG | C | 4 / 10 | p.A301fs | c.901delG | Tier2 | 1 / 57 |