HNF1A Chromosome 12
HNF1 homeobox A
Upload your DNA to see your personal genotypes for variants in HNF1A.
What This Gene Does
The protein encoded by this gene is a transcription factor required for the expression of several liver-specific genes. The encoded protein functions as a homodimer and binds to the inverted palindrome 5'-GTTAATNATTAAC-3'. Defects in this gene are a cause of maturity onset diabetes of the young type 3 (MODY3) and also can result in the appearance of hepatic adenomas. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]
Gene Info
Gene Group
HNF class homeoboxes
Locus Type
gene with protein product
Location
12q24.31
Ensembl
ENSG00000135100
Associated Conditions (23)
Maturity-onset diabetes of the young type 3
Maturity-onset diabetes of the young
HNF1A-related disorder
Type 2 diabetes mellitus
Nonpapillary renal cell carcinoma
6 conditions
Type 1 diabetes mellitus 20
Diabetes mellitus type 1
Monogenic diabetes
Ovarian cancer
Insulin-resistant diabetes mellitus
Hepatic adenomas
familial
Hepatocellular carcinoma
Hyperinsulinism due to HNF1A deficiency
Diabetes mellitus
Keratoderma-ichthyosis-deafness syndrome
autosomal recessive
Neoplasm
Neurofibromatosis
+3 more conditions
Key Variants
RS1026422272
Conflicting classifications of pathogenicity
Maturity-onset diabetes of the young type 3, Maturity-onset diabetes of the young, Maturity-onset diabetes of the young type 3
Health Risk
RS1039479235
Conflicting classifications of pathogenicity
Maturity-onset diabetes of the young, HNF1A-related disorder, Maturity-onset diabetes of the young
Health Risk
RS1039799815
Conflicting classifications of pathogenicity
Maturity-onset diabetes of the young type 3, Maturity-onset diabetes of the young, Maturity-onset diabetes of the young type 3
Health Risk
RS1045819255
Conflicting classifications of pathogenicity
Maturity-onset diabetes of the young type 3, Maturity-onset diabetes of the young, Maturity-onset diabetes of the young type 3
Health Risk
RS11065390
Conflicting classifications of pathogenicity
Maturity-onset diabetes of the young type 3, Maturity-onset diabetes of the young, Maturity-onset diabetes of the young type 3
Health Risk
RS112986697
Conflicting classifications of pathogenicity
Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
Health Risk
RS113111047
Conflicting classifications of pathogenicity
Health Risk
RS1169289
Conflicting classifications of pathogenicity
Maturity-onset diabetes of the young type 3, Type 2 diabetes mellitus, Maturity-onset diabetes of the young
Health Risk
RS1288094664
Conflicting classifications of pathogenicity
Maturity-onset diabetes of the young, 6 conditions, Maturity-onset diabetes of the young
Health Risk
RS1316999782
Conflicting classifications of pathogenicity
Maturity-onset diabetes of the young type 3, Maturity-onset diabetes of the young, Maturity-onset diabetes of the young type 3
Health Risk
RS1374173552
Conflicting classifications of pathogenicity
Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
Health Risk
RS137853242
Conflicting classifications of pathogenicity
Maturity-onset diabetes of the young type 3, Maturity-onset diabetes of the young, Type 1 diabetes mellitus 20
Health Risk
All Variants (356)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1876081310 | Health Risk | Likely pathogenic | Maturity-onset diabetes of the young type 3, Maturity-onset diabetes of the young type 3 |
| RS1876667856 | Health Risk | Likely pathogenic | Maturity-onset diabetes of the young type 3, Maturity-onset diabetes of the young, Monogenic diabetes |
| RS1876669134 | Health Risk | Likely pathogenic | Monogenic diabetes, Maturity-onset diabetes of the young, Monogenic diabetes |
| RS1876669962 | Health Risk | Likely pathogenic | Maturity-onset diabetes of the young, Monogenic diabetes, Monogenic diabetes |
| RS1876671395 | Health Risk | Likely pathogenic | Diabetes mellitus, Maturity-onset diabetes of the young, Diabetes mellitus |
| RS1876675633 | Health Risk | Likely pathogenic | Monogenic diabetes, Monogenic diabetes |
| RS1876936419 | Health Risk | Likely pathogenic | — |
| RS1877113317 | Health Risk | Likely pathogenic | Diabetes mellitus, Maturity-onset diabetes of the young, Diabetes mellitus |
| RS1877116749 | Health Risk | Likely pathogenic | Maturity-onset diabetes of the young type 3, Maturity-onset diabetes of the young type 3 |
| RS1877168655 | Health Risk | Likely pathogenic | Diabetes mellitus, Maturity-onset diabetes of the young, Diabetes mellitus |
| RS1877301961 | Health Risk | Likely pathogenic | Maturity-onset diabetes of the young, Maturity-onset diabetes of the young |
| RS1877309778 | Health Risk | Likely pathogenic | Maturity-onset diabetes of the young type 3, Maturity-onset diabetes of the young, Maturity-onset diabetes of the young type 3 |
| RS193922582 | Health Risk | Likely pathogenic | Maturity-onset diabetes of the young type 3, Monogenic diabetes, Maturity-onset diabetes of the young |
| RS193922588 | Health Risk | Likely pathogenic | Maturity-onset diabetes of the young type 3, Monogenic diabetes, Maturity-onset diabetes of the young |
| RS193922592 | Health Risk | Likely pathogenic | Maturity-onset diabetes of the young type 3, Monogenic diabetes, Maturity-onset diabetes of the young |
| RS193922593 | Health Risk | Likely pathogenic | Maturity-onset diabetes of the young type 3, Maturity-onset diabetes of the young, Monogenic diabetes |
| RS193922594 | Health Risk | Likely pathogenic | Maturity-onset diabetes of the young type 3, Monogenic diabetes, Maturity-onset diabetes of the young |
| RS193922596 | Health Risk | Likely pathogenic | Maturity-onset diabetes of the young type 3, Monogenic diabetes, Maturity-onset diabetes of the young |
| RS193922599 | Health Risk | Likely pathogenic | Maturity-onset diabetes of the young type 3, Monogenic diabetes, Maturity-onset diabetes of the young |
| RS193922600 | Health Risk | Likely pathogenic | Maturity-onset diabetes of the young type 3, Monogenic diabetes, Maturity-onset diabetes of the young |
| RS193922604 | Health Risk | Likely pathogenic | Maturity-onset diabetes of the young type 3, Monogenic diabetes, Maturity-onset diabetes of the young |
| RS193922605 | Health Risk | Likely pathogenic | Maturity-onset diabetes of the young type 3, Monogenic diabetes, Maturity-onset diabetes of the young |
| RS2135819349 | Health Risk | Likely pathogenic | Monogenic diabetes, Monogenic diabetes |
| RS2135819368 | Health Risk | Likely pathogenic | Monogenic diabetes, Monogenic diabetes |
| RS2135819400 | Health Risk | Likely pathogenic | Monogenic diabetes, Monogenic diabetes |
| RS2135819422 | Health Risk | Likely pathogenic | Monogenic diabetes, Monogenic diabetes |
| RS2135819552 | Health Risk | Likely pathogenic | Monogenic diabetes, Monogenic diabetes |
| RS2135819583 | Health Risk | Likely pathogenic | Monogenic diabetes, Monogenic diabetes |
| RS2135819737 | Health Risk | Likely pathogenic | Maturity-onset diabetes of the young, Maturity-onset diabetes of the young |
| RS2135819908 | Health Risk | Likely pathogenic | Monogenic diabetes, Monogenic diabetes |
| RS2135819979 | Health Risk | Likely pathogenic | Monogenic diabetes, Monogenic diabetes |
| RS2135820197 | Health Risk | Likely pathogenic | Monogenic diabetes, Monogenic diabetes |
| RS2135820267 | Health Risk | Likely pathogenic | Monogenic diabetes, Monogenic diabetes |
| RS2135820413 | Health Risk | Likely pathogenic | Monogenic diabetes, Maturity-onset diabetes of the young, Monogenic diabetes |
| RS2135832474 | Health Risk | Likely pathogenic | Monogenic diabetes, Monogenic diabetes |
| RS2135832538 | Health Risk | Likely pathogenic | Monogenic diabetes, Maturity-onset diabetes of the young type 3, Monogenic diabetes |
| RS2135832562 | Health Risk | Likely pathogenic | Monogenic diabetes, Monogenic diabetes |
| RS2135832585 | Health Risk | Likely pathogenic | Monogenic diabetes, Monogenic diabetes |
| RS2135832611 | Health Risk | Likely pathogenic | Monogenic diabetes, Monogenic diabetes |
| RS2135832615 | Health Risk | Likely pathogenic | Monogenic diabetes, Monogenic diabetes |
| RS2135832675 | Health Risk | Likely pathogenic | Monogenic diabetes, Monogenic diabetes |
| RS2135832689 | Health Risk | Likely pathogenic | Monogenic diabetes, HNF1A-related disorder, Monogenic diabetes |
| RS2135832753 | Health Risk | Likely pathogenic | Monogenic diabetes, Monogenic diabetes |
| RS2135832861 | Health Risk | Likely pathogenic | Maturity-onset diabetes of the young, Maturity-onset diabetes of the young |
| RS2135839114 | Health Risk | Likely pathogenic | Maturity-onset diabetes of the young type 3, Monogenic diabetes, Maturity-onset diabetes of the young type 3 |
| RS2135839346 | Health Risk | Likely pathogenic | Monogenic diabetes, Monogenic diabetes |
| RS2135839880 | Health Risk | Likely pathogenic | Maturity-onset diabetes of the young, Monogenic diabetes, Maturity-onset diabetes of the young |
| RS2135839892 | Health Risk | Likely pathogenic | Monogenic diabetes, Monogenic diabetes |
| RS2135839897 | Health Risk | Likely pathogenic | Monogenic diabetes, HNF1A-related disorder, Monogenic diabetes |
| RS2135841104 | Health Risk | Likely pathogenic | Monogenic diabetes, Monogenic diabetes, Monogenic diabetes |