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 |
|---|---|---|---|
| RS547080919 | 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 |
| RS551484245 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young, Maturity-onset diabetes of the young |
| RS555681479 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young, 6 conditions, Maturity-onset diabetes of the young |
| RS55834942 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young type 3, Insulin-resistant diabetes mellitus, Maturity-onset diabetes of the young |
| RS561269721 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young type 3, Maturity-onset diabetes of the young, Nonpapillary renal cell carcinoma |
| RS563304627 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS56335342 | 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 |
| RS56348580 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young type 3, Type 2 diabetes mellitus, Maturity-onset diabetes of the young |
| RS563495098 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS568653423 | 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 |
| RS576862555 | Health Risk | Conflicting classifications of pathogenicity | HNF1A-related disorder, HNF1A-related disorder |
| RS587778397 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young type 3, Maturity-onset diabetes of the young, 6 conditions |
| RS587780357 | Health Risk | Conflicting classifications of pathogenicity | Diabetes mellitus type 1, Maturity-onset diabetes of the young type 3, Monogenic diabetes |
| RS749633685 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young, 6 conditions, Maturity-onset diabetes of the young |
| RS750496742 | 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 |
| RS751761766 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young type 3, Maturity-onset diabetes of the young, 6 conditions |
| RS752219487 | Health Risk | Conflicting classifications of pathogenicity | 6 conditions, Maturity-onset diabetes of the young, 6 conditions |
| RS757068809 | 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 |
| RS762669462 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young type 3, Maturity-onset diabetes of the young, HNF1A-related disorder |
| RS765596650 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young, Maturity-onset diabetes of the young |
| RS767550584 | Health Risk | Conflicting classifications of pathogenicity | HNF1A-related disorder, HNF1A-related disorder |
| RS773315874 | Health Risk | Conflicting classifications of pathogenicity | 6 conditions, 6 conditions |
| RS776710848 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young, Maturity-onset diabetes of the young |
| RS778074427 | Health Risk | Conflicting classifications of pathogenicity | Type 1 diabetes mellitus 20, Maturity-onset diabetes of the young, Type 1 diabetes mellitus 20 |
| RS927067298 | 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 |
| RS944413465 | Health Risk | Conflicting classifications of pathogenicity | Ovarian cancer, 6 conditions, Ovarian cancer |
| RS951696015 | Health Risk | Conflicting classifications of pathogenicity | Type 1 diabetes mellitus 20, Maturity-onset diabetes of the young, Type 1 diabetes mellitus 20 |
| RS1001854457 | Health Risk | Likely pathogenic | Monogenic diabetes, Monogenic diabetes |
| RS1057520291 | Health Risk | Likely pathogenic | Monogenic diabetes, Maturity-onset diabetes of the young, Maturity-onset diabetes of the young type 3 |
| RS1057524898 | Health Risk | Likely pathogenic | Monogenic diabetes, Maturity-onset diabetes of the young, Monogenic diabetes |
| RS1131692182 | Health Risk | Likely pathogenic | Maturity-onset diabetes of the young type 3, Monogenic diabetes, Maturity-onset diabetes of the young |
| RS1248594692 | Health Risk | Likely pathogenic | Maturity-onset diabetes of the young type 3, Maturity-onset diabetes of the young type 3 |
| RS1275805852 | Health Risk | Likely pathogenic | Monogenic diabetes, Monogenic diabetes, Monogenic diabetes |
| RS1286294151 | Health Risk | Likely pathogenic | Monogenic diabetes, Maturity-onset diabetes of the young, Maturity-onset diabetes of the young type 3 |
| RS1308016430 | Health Risk | Likely pathogenic | Maturity-onset diabetes of the young type 3, Monogenic diabetes, Maturity-onset diabetes of the young |
| RS137853237 | Health Risk | Likely pathogenic | Maturity-onset diabetes of the young type 3, Monogenic diabetes, Maturity-onset diabetes of the young |
| RS137853245 | Health Risk | Likely pathogenic | Maturity-onset diabetes of the young type 3, Monogenic diabetes, Hyperinsulinism due to HNF1A deficiency |
| RS1399164820 | Health Risk | Likely pathogenic | Monogenic diabetes, Maturity-onset diabetes of the young, Monogenic diabetes |
| RS1463923467 | 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 |
| RS1475566248 | Health Risk | Likely pathogenic | HNF1A-related disorder, Monogenic diabetes, HNF1A-related disorder |
| RS1555211434 | Health Risk | Likely pathogenic | Monogenic diabetes, Maturity-onset diabetes of the young, Monogenic diabetes |
| RS1555211448 | Health Risk | Likely pathogenic | Maturity-onset diabetes of the young, Monogenic diabetes, Maturity-onset diabetes of the young |
| RS1555211904 | Health Risk | Likely pathogenic | Monogenic diabetes, Maturity-onset diabetes of the young type 3, Maturity-onset diabetes of the young |
| RS1555211935 | Health Risk | Likely pathogenic | Monogenic diabetes, HNF1A-related disorder, Monogenic diabetes |
| RS1555211975 | Health Risk | Likely pathogenic | Monogenic diabetes, Maturity-onset diabetes of the young, Monogenic diabetes |
| RS1555211999 | Health Risk | Likely pathogenic | Monogenic diabetes, Maturity-onset diabetes of the young, Monogenic diabetes |
| RS1555212359 | Health Risk | Likely pathogenic | Maturity-onset diabetes of the young type 3, Monogenic diabetes, Maturity-onset diabetes of the young |
| RS1555212749 | 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 |
| RS1565883507 | Health Risk | Likely pathogenic | Maturity-onset diabetes of the young, Monogenic diabetes, Maturity-onset diabetes of the young |
| RS1566092362 | Health Risk | Likely pathogenic | Monogenic diabetes, Monogenic diabetes, Monogenic diabetes |