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 |
|---|---|---|---|
| RS1026422272 | Health Risk | 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 |
| RS1039479235 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young, HNF1A-related disorder, Maturity-onset diabetes of the young |
| RS1039799815 | Health Risk | 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 |
| RS1045819255 | Health Risk | 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 |
| RS11065390 | Health Risk | 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 |
| RS112986697 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young, Maturity-onset diabetes of the young |
| RS113111047 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1169289 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young type 3, Type 2 diabetes mellitus, Maturity-onset diabetes of the young |
| RS1288094664 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young, 6 conditions, Maturity-onset diabetes of the young |
| RS1316999782 | Health Risk | 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 |
| RS1374173552 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young, Maturity-onset diabetes of the young |
| RS137853242 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young type 3, Maturity-onset diabetes of the young, Type 1 diabetes mellitus 20 |
| RS139016696 | Health Risk | Conflicting classifications of pathogenicity | 6 conditions, Diabetes mellitus type 1, Type 2 diabetes mellitus |
| RS139712739 | Health Risk | 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 |
| RS140491072 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young type 3, Monogenic diabetes, HNF1A-related disorder |
| RS141304623 | Health Risk | Conflicting classifications of pathogenicity | Monogenic diabetes, Maturity-onset diabetes of the young, HNF1A-related disorder |
| RS145240086 | Health Risk | 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 |
| RS147630771 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young, Maturity-onset diabetes of the young |
| RS148961412 | Health Risk | 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 |
| RS150513055 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young type 3, Monogenic diabetes, 6 conditions |
| RS1555210473 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young, 6 conditions, Maturity-onset diabetes of the young |
| RS1555211436 | Health Risk | Conflicting classifications of pathogenicity | Monogenic diabetes, Maturity-onset diabetes of the young, Maturity-onset diabetes of the young type 3 |
| RS1565883574 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young, Maturity-onset diabetes of the young |
| RS1565885524 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young, Maturity-onset diabetes of the young |
| RS1592898255 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young, Maturity-onset diabetes of the young |
| RS1876937295 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young, Maturity-onset diabetes of the young |
| RS1877124452 | Health Risk | Conflicting classifications of pathogenicity | 6 conditions, 6 conditions |
| RS1877438684 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1877471070 | Health Risk | 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 |
| RS1877483762 | Health Risk | 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 |
| RS193922584 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young type 3, Maturity-onset diabetes of the young, Diabetes mellitus type 1 |
| RS193922585 | Health Risk | Conflicting classifications of pathogenicity | Type 1 diabetes mellitus 20, Type 1 diabetes mellitus 20 |
| RS193922591 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young, Ovarian cancer, 6 conditions |
| RS193922601 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young, 6 conditions, Maturity-onset diabetes of the young |
| RS193922607 | Health Risk | 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 |
| RS200502496 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young, Maturity-onset diabetes of the young |
| RS201095611 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young type 3, 6 conditions, Maturity-onset diabetes of the young type 3 |
| RS201811844 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young type 3, 6 conditions, HNF1A-related disorder |
| RS201934320 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2135832696 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young, Maturity-onset diabetes of the young type 3, Maturity-onset diabetes of the young |
| RS2135845768 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2464195 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young type 3, Type 2 diabetes mellitus, Maturity-onset diabetes of the young |
| RS368683806 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young, Maturity-onset diabetes of the young |
| RS369764257 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young type 3, Maturity-onset diabetes of the young, 6 conditions |
| RS373857078 | Health Risk | Conflicting classifications of pathogenicity | 6 conditions, HNF1A-related disorder, 6 conditions |
| RS374306837 | Health Risk | Conflicting classifications of pathogenicity | 6 conditions, Maturity-onset diabetes of the young, 6 conditions |
| RS375259151 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young, Maturity-onset diabetes of the young |
| RS538619966 | Health Risk | 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 |
| RS539507291 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young type 3, Maturity-onset diabetes of the young, 6 conditions |
| RS544842497 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young, Diabetes mellitus type 1, Maturity-onset diabetes of the young type 3 |