The HNF1A gene homepage
| General information |
| Gene symbol |
HNF1A |
| Gene name |
HNF1 homeobox A |
| Chromosome |
12 |
| Chromosomal band |
q24.31 |
| Imprinted |
Unknown |
| Genomic reference |
LRG_522 |
| Transcript reference |
NM_000545.5, XM_005253931.1 |
| Associated with diseases |
IDDM, IDDM-20, MODY-3, NIDDM, RCC, Hepatic adenomas, familial |
| Citation reference(s) |
- |
| Curators (1) |
Johan T. den Dunnen |
| Total number of public variants reported |
281 |
| Unique public DNA variants reported |
25 |
| Individuals with public variants |
35 |
| Hidden variants |
77 |
| Date created |
November 30, -0001 |
| Date last updated |
September 28, 2016 |
| Version |
HNF1A:160928 |
| Links to other resources |
| External URL |
List of LSDBs for this gene The reference LOVD for this gene, if available |
| HGNC |
HGNC:11621 |
| Entrez Gene |
6927 |
| PubMed articles |
HNF1A |
| OMIM - Gene |
142410 |
| OMIM - Diseases |
IDDM (diabetes mellitus, insulin-dependent (IDDM)) IDDM-20 (diabetes mellitus, insulin-dependent, type 20 (IDDM-20)) MODY-3 (diabetes of the young, maturity-onset, type 3 (MODY-3)) NIDDM (diabetes mellitus, noninsulin-dependent (NIDDM)) RCC (carcinoma, renal cell, nonpapillary (RCC)) Hepatic adenomas, familial |
Active transcripts
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