HNF1B Chromosome 17
HNF1 homeobox B
Upload your DNA to see your personal genotypes for variants in HNF1B.
What This Gene Does
This gene encodes a member of the homeodomain-containing superfamily of transcription factors. The protein binds to DNA as either a homodimer, or a heterodimer with the related protein hepatocyte nuclear factor 1-alpha. The gene has been shown to function in nephron development, and regulates development of the embryonic pancreas. Mutations in this gene result in renal cysts and diabetes syndrome and noninsulin-dependent diabetes mellitus, and expression of this gene is altered in some types of cancer. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]
Gene Info
Gene Group
HNF class homeoboxes
Locus Type
gene with protein product
Location
17q12
Ensembl
ENSG00000275410
Associated Conditions (16)
Renal cysts and diabetes syndrome
Maturity-onset diabetes of the young
Type 2 diabetes mellitus
HNF1B-related disorder
Ovarian cancer
Congenital anomaly of kidney and urinary tract
Nonpapillary renal cell carcinoma
Monogenic diabetes
Autosomal dominant polycystic liver disease
Hyperuricemic nephropathy
familial juvenile type 3
Hyperechogenic kidneys
See cases
Chromophobe renal cell carcinoma
Autosomal dominant medullary cystic kidney disease with or without hyperuricemia
Inborn genetic diseases
Key Variants
RS113042313
Conflicting classifications of pathogenicity
Renal cysts and diabetes syndrome, Maturity-onset diabetes of the young, Type 2 diabetes mellitus
Health Risk
RS1197263675
Conflicting classifications of pathogenicity
Renal cysts and diabetes syndrome, Maturity-onset diabetes of the young, Renal cysts and diabetes syndrome
Health Risk
RS1210118895
Conflicting classifications of pathogenicity
Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome
Health Risk
RS1212716750
Conflicting classifications of pathogenicity
Renal cysts and diabetes syndrome, Maturity-onset diabetes of the young, Renal cysts and diabetes syndrome
Health Risk
RS1215174368
Conflicting classifications of pathogenicity
Maturity-onset diabetes of the young, HNF1B-related disorder, Maturity-onset diabetes of the young
Health Risk
RS121918673
Conflicting classifications of pathogenicity
Type 2 diabetes mellitus, Renal cysts and diabetes syndrome, Ovarian cancer
Health Risk
RS1263484305
Conflicting classifications of pathogenicity
Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome
Health Risk
RS1282596664
Conflicting classifications of pathogenicity
Renal cysts and diabetes syndrome, Congenital anomaly of kidney and urinary tract, Nonpapillary renal cell carcinoma
Health Risk
RS1285239018
Conflicting classifications of pathogenicity
Renal cysts and diabetes syndrome, HNF1B-related disorder, Maturity-onset diabetes of the young
Health Risk
RS1375568430
Conflicting classifications of pathogenicity
Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
Health Risk
RS138986885
Conflicting classifications of pathogenicity
Renal cysts and diabetes syndrome, HNF1B-related disorder, Nonpapillary renal cell carcinoma
Health Risk
RS139107479
Conflicting classifications of pathogenicity
Renal cysts and diabetes syndrome, Maturity-onset diabetes of the young, Nonpapillary renal cell carcinoma
Health Risk
All Variants (301)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2511853681 | Health Risk | Pathogenic | Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome |
| RS2511853757 | Health Risk | Pathogenic | Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome |
| RS587776771 | Health Risk | Pathogenic | Chromophobe renal cell carcinoma, Renal cysts and diabetes syndrome, Chromophobe renal cell carcinoma |
| RS764042837 | Health Risk | Pathogenic | Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome |
| RS953274911 | Health Risk | Pathogenic | Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome |
| RS1057524479 | Health Risk | Pathogenic/Likely pathogenic | Renal cysts and diabetes syndrome, Maturity-onset diabetes of the young, Renal cysts and diabetes syndrome |
| RS121918672 | Health Risk | Pathogenic/Likely pathogenic | Renal cysts and diabetes syndrome, Autosomal dominant medullary cystic kidney disease with or without hyperuricemia, Nonpapillary renal cell carcinoma |
| RS121918674 | Health Risk | Pathogenic/Likely pathogenic | Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome, Congenital anomaly of kidney and urinary tract |
| RS1555830002 | Health Risk | Pathogenic/Likely pathogenic | Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome, Type 2 diabetes mellitus |
| RS1555833144 | Health Risk | Pathogenic/Likely pathogenic | Renal cysts and diabetes syndrome, Maturity-onset diabetes of the young, Renal cysts and diabetes syndrome |
| RS1598806177 | Health Risk | Pathogenic/Likely pathogenic | Renal cysts and diabetes syndrome, Maturity-onset diabetes of the young, Renal cysts and diabetes syndrome |
| RS1598809697 | Health Risk | Pathogenic/Likely pathogenic | Renal cysts and diabetes syndrome, Maturity-onset diabetes of the young, Renal cysts and diabetes syndrome |
| RS1598809747 | Health Risk | Pathogenic/Likely pathogenic | Renal cysts and diabetes syndrome, Maturity-onset diabetes of the young, Renal cysts and diabetes syndrome |
| RS1598840773 | Health Risk | Pathogenic/Likely pathogenic | Renal cysts and diabetes syndrome, Maturity-onset diabetes of the young, Renal cysts and diabetes syndrome |
| RS1598840795 | Health Risk | Pathogenic/Likely pathogenic | Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome, Maturity-onset diabetes of the young |
| RS1598840996 | Health Risk | Pathogenic/Likely pathogenic | Renal cysts and diabetes syndrome, Maturity-onset diabetes of the young, Renal cysts and diabetes syndrome |
| RS1598841082 | Health Risk | Pathogenic/Likely pathogenic | Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome, Maturity-onset diabetes of the young |
| RS1598842886 | Health Risk | Pathogenic/Likely pathogenic | Renal cysts and diabetes syndrome, Maturity-onset diabetes of the young, Renal cysts and diabetes syndrome |
| RS1598842892 | Health Risk | Pathogenic/Likely pathogenic | Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome |
| RS1598854747 | Health Risk | Pathogenic/Likely pathogenic | Renal cysts and diabetes syndrome, Maturity-onset diabetes of the young, Renal cysts and diabetes syndrome |
| RS193922489 | Health Risk | Pathogenic/Likely pathogenic | Renal cysts and diabetes syndrome, Nonpapillary renal cell carcinoma, Type 2 diabetes mellitus |
| RS193922490 | Health Risk | Pathogenic/Likely pathogenic | Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome |
| RS2032692897 | Health Risk | Pathogenic/Likely pathogenic | Renal cysts and diabetes syndrome, Maturity-onset diabetes of the young, Renal cysts and diabetes syndrome |
| RS2033925649 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Renal cysts and diabetes syndrome, Inborn genetic diseases |
| RS2034124973 | Health Risk | Pathogenic/Likely pathogenic | Renal cysts and diabetes syndrome, Maturity-onset diabetes of the young, Renal cysts and diabetes syndrome |
| RS2147473703 | Health Risk | Pathogenic/Likely pathogenic | Type 2 diabetes mellitus, Renal cysts and diabetes syndrome, Nonpapillary renal cell carcinoma |
| RS2147553451 | Health Risk | Pathogenic/Likely pathogenic | Type 2 diabetes mellitus, Nonpapillary renal cell carcinoma, Renal cysts and diabetes syndrome |
| RS2511723972 | Health Risk | Pathogenic/Likely pathogenic | Renal cysts and diabetes syndrome, Type 2 diabetes mellitus, Nonpapillary renal cell carcinoma |
| RS2511801729 | Health Risk | Pathogenic/Likely pathogenic | Renal cysts and diabetes syndrome, Maturity-onset diabetes of the young, Renal cysts and diabetes syndrome |
| RS2511801868 | Health Risk | Pathogenic/Likely pathogenic | Renal cysts and diabetes syndrome, Nonpapillary renal cell carcinoma, Type 2 diabetes mellitus |
| RS2511802259 | Health Risk | Pathogenic/Likely pathogenic | Renal cysts and diabetes syndrome, Type 2 diabetes mellitus, Nonpapillary renal cell carcinoma |
| RS2511828138 | Health Risk | Pathogenic/Likely pathogenic | Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome |
| RS2511828837 | Health Risk | Pathogenic/Likely pathogenic | Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome |
| RS886041820 | Health Risk | Pathogenic/Likely pathogenic | Renal cysts and diabetes syndrome, Maturity-onset diabetes of the young, Renal cysts and diabetes syndrome |
| RS1598815016 | Health Risk | Pathogenic/Likely risk allele | Renal cysts and diabetes syndrome, Maturity-onset diabetes of the young, Renal cysts and diabetes syndrome |
| RS1568665613 | Health Risk | Uncertain risk allele | Maturity-onset diabetes of the young, Maturity-onset diabetes of the young |
| RS1568675935 | Health Risk | Uncertain risk allele | Maturity-onset diabetes of the young, Maturity-onset diabetes of the young |
| RS2032559501 | Health Risk | Uncertain risk allele | Renal cysts and diabetes syndrome, Maturity-onset diabetes of the young, Renal cysts and diabetes syndrome |
| RS753631084 | Health Risk | Uncertain risk allele | Maturity-onset diabetes of the young, Maturity-onset diabetes of the young |
| RS757044850 | Health Risk | Uncertain risk allele | Maturity-onset diabetes of the young, Maturity-onset diabetes of the young |
| RS764132839 | Health Risk | Uncertain risk allele | Maturity-onset diabetes of the young, Maturity-onset diabetes of the young |
| RS1304695155 | Health Risk | Uncertain significance/Uncertain risk allele | Maturity-onset diabetes of the young, Maturity-onset diabetes of the young |
| RS1321074352 | Health Risk | Uncertain significance/Uncertain risk allele | Maturity-onset diabetes of the young, Type 2 diabetes mellitus, Nonpapillary renal cell carcinoma |
| RS1555833051 | Health Risk | Uncertain significance/Uncertain risk allele | Monogenic diabetes, Maturity-onset diabetes of the young, HNF1B-related disorder |
| RS1568670778 | Health Risk | Uncertain significance/Uncertain risk allele | Maturity-onset diabetes of the young, Maturity-onset diabetes of the young |
| RS2032897142 | Health Risk | Uncertain significance/Uncertain risk allele | Monogenic diabetes, Maturity-onset diabetes of the young, Monogenic diabetes |
| RS753847783 | Health Risk | Uncertain significance/Uncertain risk allele | Maturity-onset diabetes of the young, HNF1B-related disorder, Maturity-onset diabetes of the young |
| RS759270956 | Health Risk | Uncertain significance/Uncertain risk allele | Renal cysts and diabetes syndrome, Type 2 diabetes mellitus, Nonpapillary renal cell carcinoma |
| RS764079701 | Health Risk | Uncertain significance/Uncertain risk allele | Maturity-onset diabetes of the young, Maturity-onset diabetes of the young |
| RS770078634 | Health Risk | Uncertain significance/Uncertain risk allele | Maturity-onset diabetes of the young, Maturity-onset diabetes of the young |