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 |
|---|---|---|---|
| RS2499998322 | Health Risk | Pathogenic | HNF1A-related disorder, HNF1A-related disorder |
| RS2499998332 | Health Risk | Pathogenic | — |
| RS2500001248 | Health Risk | Pathogenic | Monogenic diabetes, Monogenic diabetes |
| RS2500001702 | Health Risk | Pathogenic | — |
| RS2500001875 | Health Risk | Pathogenic | — |
| RS2500002334 | Health Risk | Pathogenic | — |
| RS2500002391 | Health Risk | Pathogenic | — |
| RS2500004981 | Health Risk | Pathogenic | HNF1A-related disorder, HNF1A-related disorder |
| RS2500005075 | Health Risk | Pathogenic | — |
| RS2500005524 | Health Risk | Pathogenic | Maturity-onset diabetes of the young type 3, Maturity-onset diabetes of the young type 3 |
| RS2500008986 | Health Risk | Pathogenic | — |
| RS2500009157 | Health Risk | Pathogenic | — |
| RS2500010485 | Health Risk | Pathogenic | HNF1A-related disorder, HNF1A-related disorder |
| RS371717826 | Health Risk | Pathogenic | Monogenic diabetes, Maturity-onset diabetes of the young, Monogenic diabetes |
| RS371807951 | Health Risk | Pathogenic | Maturity-onset diabetes of the young type 3, Maturity-onset diabetes of the young, Monogenic diabetes |
| RS483353044 | Health Risk | Pathogenic | Type 1 diabetes mellitus 20, Type 1 diabetes mellitus 20 |
| RS587776825 | Health Risk | Pathogenic | Maturity-onset diabetes of the young type 3, Clear cell carcinoma of kidney, Hepatic adenomas |
| RS749673816 | Health Risk | Pathogenic | Monogenic diabetes, Maturity-onset diabetes of the young, 6 conditions |
| RS752886203 | Health Risk | Pathogenic | Maturity-onset diabetes of the young type 3, Monogenic diabetes, Maturity-onset diabetes of the young type 3 |
| RS753998395 | Health Risk | Pathogenic | Monogenic diabetes, Maturity-onset diabetes of the young type 3, Monogenic diabetes |
| RS754728827 | Health Risk | Pathogenic | Maturity-onset diabetes of the young type 3, Maturity-onset diabetes of the young, Monogenic diabetes |
| RS766191969 | Health Risk | Pathogenic | Maturity-onset diabetes of the young type 3, Type 1 diabetes mellitus 20, Maturity-onset diabetes of the young type 3 |
| RS766704468 | Health Risk | Pathogenic | — |
| RS766956862 | Health Risk | Pathogenic | Monogenic diabetes, Maturity-onset diabetes of the young, Monogenic diabetes |
| RS771108132 | Health Risk | Pathogenic | Monogenic diabetes, Maturity-onset diabetes of the young, Monogenic diabetes |
| RS779184183 | Health Risk | Pathogenic | Diabetes mellitus, Monogenic diabetes, Maturity-onset diabetes of the young type 3 |
| RS893256143 | Health Risk | Pathogenic | Diabetes mellitus, Monogenic diabetes, Maturity-onset diabetes of the young |
| RS1458430820 | Health Risk | Pathogenic/Likely pathogenic | Maturity-onset diabetes of the young type 3, Maturity-onset diabetes of the young, Maturity-onset diabetes of the young type 3 |
| RS1565885935 | Health Risk | Pathogenic/Likely pathogenic | Maturity-onset diabetes of the young type 3, Maturity-onset diabetes of the young, Maturity-onset diabetes of the young type 3 |
| RS1593054210 | Health Risk | Pathogenic/Likely pathogenic | Maturity-onset diabetes of the young, Maturity-onset diabetes of the young |
| RS1593058932 | Health Risk | Pathogenic/Likely pathogenic | Maturity-onset diabetes of the young, Monogenic diabetes, Maturity-onset diabetes of the young type 3 |
| RS1593060890 | Health Risk | Pathogenic/Likely pathogenic | Maturity-onset diabetes of the young, Maturity-onset diabetes of the young type 3, Maturity-onset diabetes of the young |
| RS1593060912 | Health Risk | Pathogenic/Likely pathogenic | Maturity-onset diabetes of the young, Maturity-onset diabetes of the young |
| RS1593060966 | Health Risk | Pathogenic/Likely pathogenic | Maturity-onset diabetes of the young, Maturity-onset diabetes of the young |
| RS1876084046 | Health Risk | Pathogenic/Likely pathogenic | Maturity-onset diabetes of the young, Maturity-onset diabetes of the young type 3, Maturity-onset diabetes of the young |
| RS1877096238 | Health Risk | Pathogenic/Likely pathogenic | Maturity-onset diabetes of the young, Maturity-onset diabetes of the young |
| RS1877180449 | Health Risk | Pathogenic/Likely pathogenic | Maturity-onset diabetes of the young, Maturity-onset diabetes of the young |
| RS1877293842 | Health Risk | Pathogenic/Likely pathogenic | Maturity-onset diabetes of the young type 3, Maturity-onset diabetes of the young, Maturity-onset diabetes of the young type 3 |
| RS193922583 | Health Risk | Pathogenic/Likely pathogenic | Maturity-onset diabetes of the young, Maturity-onset diabetes of the young |
| RS2135833007 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS2135839643 | Health Risk | Pathogenic/Likely pathogenic | Maturity-onset diabetes of the young type 3, Maturity-onset diabetes of the young type 3 |
| RS2135847381 | Health Risk | Pathogenic/Likely pathogenic | Maturity-onset diabetes of the young type 3, Maturity-onset diabetes of the young type 3 |
| RS2500001477 | Health Risk | Pathogenic/Likely pathogenic | Maturity-onset diabetes of the young, Maturity-onset diabetes of the young |
| RS2500005690 | Health Risk | Pathogenic/Likely pathogenic | Maturity-onset diabetes of the young type 3, Maturity-onset diabetes of the young, Maturity-onset diabetes of the young type 3 |
| RS776793516 | Health Risk | Pathogenic/Likely risk allele | Maturity-onset diabetes of the young type 3, Maturity-onset diabetes of the young, Maturity-onset diabetes of the young type 3 |
| RS1298749678 | Health Risk | Uncertain risk allele | Maturity-onset diabetes of the young, Maturity-onset diabetes of the young |
| RS1002380887 | Health Risk | Uncertain significance/Uncertain risk allele | Nonpapillary renal cell carcinoma, Maturity-onset diabetes of the young, Nonpapillary renal cell carcinoma |
| RS1401743626 | Health Risk | Uncertain significance/Uncertain risk allele | Maturity-onset diabetes of the young type 3, Type 1 diabetes mellitus 20, Maturity-onset diabetes of the young |
| RS147198532 | Health Risk | Uncertain significance/Uncertain risk allele | Maturity-onset diabetes of the young type 3, Maturity-onset diabetes of the young, Maturity-onset diabetes of the young type 3 |
| RS1877318918 | Health Risk | Uncertain significance/Uncertain risk allele | Maturity-onset diabetes of the young type 3, Maturity-onset diabetes of the young, 6 conditions |