HNF1A (HNF1 homeobox A) - Rat Genome Database

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Gene: HNF1A (HNF1 homeobox A) Homo sapiens
Analyze
Symbol: HNF1A
Name: HNF1 homeobox A
RGD ID: 737153
HGNC Page HGNC
Description: Exhibits DNA-binding transcription factor activity; protein dimerization activity; and transcription regulatory region sequence-specific DNA binding activity. Involved in several processes, including glucose transmembrane transport; insulin secretion; and positive regulation of transcription initiation from RNA polymerase II promoter. Localizes to cytoplasm; nucleus; and protein-containing complex. Implicated in glucose metabolism disease (multiple); liver disease (multiple); and renal cell carcinoma.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: albumin proximal factor; hepatic nuclear factor 1; hepatocyte nuclear factor 1-alpha; HNF-1-alpha; HNF-1A; HNF1; HNF1A homeobox A delta 2; HNF1A homeobox A insIVS8; HNF1alpha; HNF4A; IDDM20; interferon production regulator factor; LF-B1, hepatic nuclear factor (HNF1), albumin proximal factor; LFB1; liver-specific transcription factor LF-B1; MODY3; TCF-1; TCF1; transcription factor 1; transcription factor 1, hepatic; truncated hepatocyte nuclear factor 1 alpha
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl12120,978,543 - 121,002,512 (+)EnsemblGRCh38hg38GRCh38
GRCh3812120,977,683 - 121,002,512 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh3712121,416,346 - 121,440,315 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3612119,900,932 - 119,924,698 (+)NCBINCBI36hg18NCBI36
Build 3412119,879,268 - 119,903,032NCBI
Celera12121,051,978 - 121,075,735 (+)NCBI
Cytogenetic Map12q24.31NCBI
HuRef12118,425,936 - 118,448,929 (+)NCBIHuRef
CHM1_112121,385,205 - 121,409,144 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dinitrotoluene  (ISO)
2,6-di-tert-butyl-4-methylphenol  (ISO)
5-aza-2'-deoxycytidine  (EXP)
5-azacytidine  (EXP)
acetylsalicylic acid  (ISO)
aflatoxin B1  (EXP)
aldehydo-D-glucose  (EXP)
ammonium chloride  (ISO)
amphetamine  (ISO)
Aroclor 1254  (ISO)
baicalin  (EXP,ISO)
benzo[a]pyrene  (EXP)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (ISO)
butanal  (EXP)
Butylbenzyl phthalate  (ISO)
butyric acid  (ISO)
cannabidiol  (ISO)
carbamazepine  (EXP)
carmustine  (EXP)
cisplatin  (EXP,ISO)
D-glucose  (EXP)
DDT  (ISO)
dexamethasone  (EXP,ISO)
dextran sulfate  (ISO)
dibutyl phthalate  (ISO)
diclofenac  (EXP)
diethylstilbestrol  (ISO)
dioxygen  (EXP,ISO)
dipentyl phthalate  (ISO)
ethanol  (EXP,ISO)
folic acid  (ISO)
genistein  (ISO)
gentamycin  (ISO)
glucose  (EXP)
lipopolysaccharide  (ISO)
lithocholic acid  (ISO)
LY294002  (ISO)
mercury atom  (EXP)
mercury(0)  (EXP)
methapyrilene  (ISO)
N-acetylsphingosine  (ISO)
N-nitrosodiethylamine  (ISO)
Nonylphenol  (ISO)
ochratoxin A  (ISO)
paracetamol  (EXP,ISO)
PCB138  (ISO)
perfluorooctanoic acid  (EXP)
pregnenolone 16alpha-carbonitrile  (ISO)
propanal  (EXP)
Ptaquiloside  (ISO)
resveratrol  (EXP)
salvianolic acid B  (EXP)
silicon dioxide  (EXP)
simvastatin  (ISO)
sodium arsenite  (EXP)
tetrachloromethane  (ISO)
thymoquinone  (EXP)
titanium dioxide  (ISO)
trimellitic anhydride  (ISO)
triptonide  (ISO)
urethane  (EXP)
ursodeoxycholic acid  (EXP)
valproic acid  (EXP,ISO)
zinc atom  (ISO)
zinc(0)  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
bile acid and bile salt transport  (IEA,ISO)
bile acid biosynthetic process  (IEA,ISO)
blastocyst development  (IEA,ISO)
bone resorption  (IEA,ISO)
cholesterol metabolic process  (IEA,ISO)
chromatin remodeling  (IEA,ISO)
embryonic limb morphogenesis  (IEA,ISO)
endocrine pancreas development  (IEA,ISO)
fatty acid biosynthetic process  (IEA,ISO)
fatty acid transport  (IEA,ISO)
glucose homeostasis  (IEA,IMP,ISO)
glucose import  (IEA,IMP)
heme biosynthetic process  (IEA,ISO)
histone acetylation  (IEA,ISO)
insulin secretion  (IEA,IMP,ISO)
liver development  (IEA,ISO)
negative regulation of transcription by RNA polymerase II  (IEA,ISO)
pancreas development  (IEA)
paraxial mesoderm formation  (IEA,ISO)
placenta development  (IEA,ISO)
positive regulation of transcription by RNA polymerase II  (IEA,ISO,ISS)
positive regulation of transcription initiation from RNA polymerase II promoter  (IGI)
positive regulation of transcription, DNA-templated  (IDA,IEA,ISO)
protein localization  (ISO)
regulation of hormone secretion  (IEA,ISO)
regulation of pronephros size  (IMP)
regulation of transcription by RNA polymerase II  (IBA,IDA,IEA,ISO)
regulation of transcription, DNA-templated  (ISO)
regulation of Wnt signaling pathway  (IEA,ISO)
renal glucose absorption  (IEA,IMP)
reproductive structure development  (ISO)
response to glucose  (IEA,ISO)
response to oxidative stress  (IEA,ISO)
reverse cholesterol transport  (IEA,ISO)
SMAD protein signal transduction  (IEA,ISO)
transcription by RNA polymerase II  (IEA,ISO)

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal C-peptide level  (IAGP)
Abnormal circulating fatty-acid concentration  (IAGP)
Abnormal oral glucose tolerance  (IAGP)
Agitation  (IAGP)
Autoimmunity  (IAGP)
Autosomal dominant inheritance  (IAGP)
Clear cell renal cell carcinoma  (IAGP)
Coma  (IAGP)
Decreased level of 1,5 anhydroglucitol in serum  (IAGP)
Diabetes mellitus  (IAGP)
Diarrhea  (IAGP)
Drowsiness  (IAGP)
Elevated hemoglobin A1c  (IAGP)
Elevated hepatic transaminase  (IAGP)
Exocrine pancreatic insufficiency  (IAGP)
Fasting hypoglycemia  (IAGP)
Fatigue  (IAGP)
Glycosuria  (IAGP)
Hepatocellular adenoma  (IAGP)
Hepatomegaly  (IAGP)
Heterogeneous  (IAGP)
Hyperglycemia  (IAGP)
Hyperhidrosis  (IAGP)
Hyperinsulinemic hypoglycemia  (IAGP)
Hypoinsulinemia  (IAGP)
Hypoketotic hypoglycemia  (IAGP)
Increased waist to hip ratio  (IAGP)
Infantile onset  (IAGP)
Insulin resistance  (IAGP)
Intellectual disability  (IAGP)
Intrauterine growth retardation  (IAGP)
Ketoacidosis  (IAGP)
Large for gestational age  (IAGP)
Late onset  (IAGP)
Lethargy  (IAGP)
Maturity-onset diabetes of the young  (IAGP)
Neonatal hypoglycemia  (IAGP)
Neonatal hypotonia  (IAGP)
Nephropathy  (IAGP)
Obesity  (IAGP)
Overweight  (IAGP)
Pallor  (IAGP)
Pancreatic hypoplasia  (IAGP)
Pancreatic islet-cell hyperplasia  (IAGP)
Polycystic ovaries  (IAGP)
Polydipsia  (IAGP)
Polyphagia  (IAGP)
Polyuria  (IAGP)
Progressive neurologic deterioration  (IAGP)
Renal cell carcinoma  (IAGP)
Renal cyst  (IAGP)
Retinopathy  (IAGP)
Seizure  (IAGP)
Sporadic  (IAGP)
Tachycardia  (IAGP)
Transient neonatal diabetes mellitus  (IAGP)
Tremor  (IAGP)
Type I diabetes mellitus  (IAGP)
Type II diabetes mellitus  (IAGP)
Vomiting  (IAGP)
References

References - curated
1. Bacq Y, etal., Gastroenterology. 2003 Nov;125(5):1470-5. doi: 10.1016/j.gastro.2003.07.012.
2. Bellanne-Chantelot C, etal., Diabetes. 2008 Feb;57(2):503-8. Epub 2007 Nov 14.
3. Bluteau O, etal., Nat Genet. 2002 Oct;32(2):312-5. doi: 10.1038/ng1001. Epub 2002 Sep 23.
4. Ding CH, etal., Mol Cancer. 2018 Feb 21;17(1):63. doi: 10.1186/s12943-018-0813-1.
5. Dmitrieva RI, etal., Hypertension. 2008 Jun;51(6):1583-9. Epub 2008 Apr 28.
6. Ellard S, etal., Diabetologia. 2007 Nov;50(11):2313-7. Epub 2007 Sep 8.
7. Geier A, etal., Hepatology. 2005 Mar;41(3):470-7. doi: 10.1002/hep.20594.
8. GOA_HUMAN data from the GO Consortium
9. Holmkvist J, etal., Diabetes. 2008 Jun;57(6):1738-44. Epub 2008 Mar 10.
10. Jackson AE, etal., Diabetes. 2004 Aug;53(8):2122-5.
11. Klaus A and Birchmeier W, Nat Rev Cancer. 2008 May;8(5):387-98.
12. OMIM Disease Annotation Pipeline
13. Patitucci C, etal., J Clin Invest. 2017 May 1;127(5):1873-1888. doi: 10.1172/JCI90327. Epub 2017 Apr 10.
14. Pipeline to import KEGG annotations from KEGG into RGD
15. Pipeline to import Pathway Interaction Database annotations from NCI into RGD
16. RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
17. RGD automated import pipeline for gene-chemical interactions
18. RGD automated import pipeline for human HPO-to-gene-to-disease annotations
19. Shaat N, etal., Diabetologia. 2006 Jul;49(7):1545-51. Epub 2006 Apr 26.
20. Wu W, etal., Hepatology. 2016 Jun;63(6):1943-56. doi: 10.1002/hep.28495. Epub 2016 Mar 24.
21. Yamagata K, etal., Nature. 1996 Dec 5;384(6608):455-8.
22. Yang X, etal., Biochem Biophys Res Commun. 2004 May 14;317(4):1045-51.
Additional References at PubMed
PMID:1329097   PMID:1535333   PMID:1677179   PMID:1707031   PMID:1989880   PMID:2044952   PMID:2263635   PMID:2460858   PMID:7795649   PMID:7900999   PMID:8288579   PMID:9032114  
PMID:9075818   PMID:9075819   PMID:9092652   PMID:9097962   PMID:9112026   PMID:9133564   PMID:9166684   PMID:9287053   PMID:9287055   PMID:9313763   PMID:9313764   PMID:9392505  
PMID:9439666   PMID:9604876   PMID:9621514   PMID:9626139   PMID:9754819   PMID:9792724   PMID:9867222   PMID:10078571   PMID:10084598   PMID:10102714   PMID:10209158   PMID:10330009  
PMID:10333057   PMID:10482964   PMID:10484768   PMID:10588527   PMID:10649494   PMID:10677375   PMID:10777539   PMID:10779377   PMID:10944108   PMID:11134330   PMID:11162430   PMID:11266540  
PMID:11269503   PMID:11301190   PMID:11440371   PMID:11522670   PMID:11668618   PMID:11772903   PMID:11827432   PMID:11938027   PMID:11978637   PMID:11980910   PMID:12011060   PMID:12012276  
PMID:12050210   PMID:12107263   PMID:12107757   PMID:12235114   PMID:12378390   PMID:12442280   PMID:12453420   PMID:12453961   PMID:12453975   PMID:12453976   PMID:12477932   PMID:12488960  
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PMID:12730871   PMID:12743700   PMID:12762846   PMID:12773136   PMID:12788852   PMID:12794133   PMID:12860991   PMID:12934344   PMID:14500717   PMID:14575719   PMID:14583183   PMID:14715527  
PMID:14728801   PMID:14747304   PMID:14988562   PMID:15111528   PMID:15194767   PMID:15217781   PMID:15270800   PMID:15300627   PMID:15305805   PMID:15326484   PMID:15355349   PMID:15489334  
PMID:15520459   PMID:15522234   PMID:15542842   PMID:15569134   PMID:15598887   PMID:15616580   PMID:15660195   PMID:15660729   PMID:15740590   PMID:15830177   PMID:15841481   PMID:15847654  
PMID:15899904   PMID:15928245   PMID:15930087   PMID:15961790   PMID:15983230   PMID:15983330   PMID:16046299   PMID:16046319   PMID:16147992   PMID:16186275   PMID:16223942   PMID:16241915  
PMID:16249556   PMID:16254374   PMID:16276364   PMID:16297991   PMID:16341674   PMID:16367885   PMID:16442529   PMID:16443774   PMID:16562587   PMID:16632067   PMID:16675441   PMID:16712787  
PMID:16714285   PMID:16760222   PMID:16781669   PMID:16788384   PMID:16793932   PMID:16873704   PMID:16893891   PMID:16930618   PMID:16963153   PMID:17021248   PMID:17033837   PMID:17037983  
PMID:17049664   PMID:17116178   PMID:17130528   PMID:17192490   PMID:17194452   PMID:17264800   PMID:17327436   PMID:17353931   PMID:17407072   PMID:17440016   PMID:17440429   PMID:17458140  
PMID:17475670   PMID:17569132   PMID:17573900   PMID:17601994   PMID:17638895   PMID:17932728   PMID:17937063   PMID:17965524   PMID:18080173   PMID:18160415   PMID:18172616   PMID:18221440  
PMID:18346225   PMID:18391435   PMID:18399756   PMID:18433021   PMID:18433912   PMID:18439548   PMID:18439552   PMID:18440731   PMID:18498634   PMID:18513302   PMID:18513305   PMID:18586913  
PMID:18593771   PMID:18671716   PMID:18672310   PMID:18720549   PMID:18777455   PMID:18811724   PMID:18854284   PMID:18940312   PMID:19060906   PMID:19119252   PMID:19150152   PMID:19169489  
PMID:19188435   PMID:19198612   PMID:19228875   PMID:19264593   PMID:19274049   PMID:19280766   PMID:19289501   PMID:19304666   PMID:19336507   PMID:19349540   PMID:19351817   PMID:19357985  
PMID:19388975   PMID:19453261   PMID:19490620   PMID:19536331   PMID:19564454   PMID:19567438   PMID:19578796   PMID:19672314   PMID:19687008   PMID:19741195   PMID:19749792   PMID:19782160  
PMID:19794065   PMID:19878569   PMID:19913121   PMID:19924231   PMID:19933992   PMID:20018894   PMID:20028982   PMID:20031592   PMID:20069546   PMID:20075150   PMID:20096102   PMID:20106981  
PMID:20113359   PMID:20132997   PMID:20133952   PMID:20172480   PMID:20195357   PMID:20393147   PMID:20394740   PMID:20396999   PMID:20416077   PMID:20460578   PMID:20546258   PMID:20568120  
PMID:20571754   PMID:20581827   PMID:20628086   PMID:20633866   PMID:20634891   PMID:20648472   PMID:20679960   PMID:20682687   PMID:20686565   PMID:20690076   PMID:20705777   PMID:20716378  
PMID:20727736   PMID:20738937   PMID:20829431   PMID:20834067   PMID:20863361   PMID:20971364   PMID:20980261   PMID:21047120   PMID:21062467   PMID:21168233   PMID:21170474   PMID:21176092  
PMID:21182953   PMID:21195701   PMID:21196492   PMID:21203500   PMID:21208426   PMID:21224407   PMID:21300955   PMID:21348892   PMID:21353246   PMID:21429061   PMID:21437455   PMID:21454713  
PMID:21498636   PMID:21573907   PMID:21647738   PMID:21683639   PMID:21747169   PMID:21814873   PMID:21873635   PMID:21909109   PMID:21975049   PMID:21988832   PMID:22001757   PMID:22010049  
PMID:22060211   PMID:22160269   PMID:22290433   PMID:22340386   PMID:22341299   PMID:22357705   PMID:22383952   PMID:22395466   PMID:22413961   PMID:22432108   PMID:22466651   PMID:22474109  
PMID:22517943   PMID:22569176   PMID:22665711   PMID:22671145   PMID:22788528   PMID:22798294   PMID:22802087   PMID:22849862   PMID:22939635   PMID:22993150   PMID:23009393   PMID:23052196  
PMID:23144326   PMID:23183503   PMID:23263486   PMID:23274891   PMID:23348805   PMID:23430038   PMID:23449499   PMID:23517481   PMID:23551881   PMID:23603156   PMID:23607861   PMID:23616187  
PMID:23679181   PMID:23707370   PMID:23721685   PMID:23760703   PMID:23803251   PMID:23824729   PMID:23844046   PMID:23878349   PMID:23922447   PMID:23978712   PMID:23981200   PMID:24014008  
PMID:24097068   PMID:24100303   PMID:24323243   PMID:24442509   PMID:24509480   PMID:24559927   PMID:24642958   PMID:24647409   PMID:24733486   PMID:24763700   PMID:24821553   PMID:24847765  
PMID:24858819   PMID:24915262   PMID:24933231   PMID:25076298   PMID:25174781   PMID:25233928   PMID:25378659   PMID:25414359   PMID:25414397   PMID:25445224   PMID:25456640   PMID:25646419  
PMID:25652089   PMID:25700366   PMID:25793983   PMID:25935773   PMID:25957097   PMID:25979074   PMID:25987348   PMID:26174136   PMID:26221053   PMID:26240958   PMID:26274031   PMID:26393317  
PMID:26436572   PMID:26446475   PMID:26549228   PMID:26646800   PMID:26669242   PMID:26714756   PMID:26776850   PMID:26853433   PMID:26855178   PMID:26981542   PMID:27059371   PMID:27083284  
PMID:27240623   PMID:27398945   PMID:27433921   PMID:27445006   PMID:27460564   PMID:27520560   PMID:27522523   PMID:27533016   PMID:27633999   PMID:27634015   PMID:27838959   PMID:27899486  
PMID:27922675   PMID:28035729   PMID:28095440   PMID:28170077   PMID:28222501   PMID:28299548   PMID:28319127   PMID:28324025   PMID:28395978   PMID:28485543   PMID:28591938   PMID:28597946  
PMID:28712822   PMID:28724612   PMID:28733222   PMID:28865121   PMID:28934671   PMID:28938416   PMID:29101032   PMID:29101303   PMID:29169850   PMID:29408271   PMID:29424957   PMID:29439679  
PMID:29486427   PMID:29493090   PMID:29598821   PMID:29666556   PMID:29731020   PMID:29792621   PMID:29844095   PMID:29895593   PMID:29927023   PMID:30021780   PMID:30074477   PMID:30121369  
PMID:30143652   PMID:30155490   PMID:30293189   PMID:30468298   PMID:30481753   PMID:30507613   PMID:30953348   PMID:30963309   PMID:31103629   PMID:31109344   PMID:31166087   PMID:31483937  
PMID:31595984   PMID:31804362   PMID:31825269   PMID:31915469   PMID:31970666   PMID:32017842   PMID:32084507   PMID:32154941   PMID:32325224   PMID:32684311   PMID:32910913   PMID:33004870  
PMID:33024199   PMID:33214606  


Genomics

Candidate Gene Status
HNF1A is a candidate Gene for QTL BW105_H
HNF1A is a candidate Gene for QTL SLEP16_H
HNF1A is a candidate Gene for QTL GLUCO252_H
HNF1A is a candidate Gene for QTL GLUCO244_H
Comparative Map Data
HNF1A
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl12120,978,543 - 121,002,512 (+)EnsemblGRCh38hg38GRCh38
GRCh3812120,977,683 - 121,002,512 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh3712121,416,346 - 121,440,315 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3612119,900,932 - 119,924,698 (+)NCBINCBI36hg18NCBI36
Build 3412119,879,268 - 119,903,032NCBI
Celera12121,051,978 - 121,075,735 (+)NCBI
Cytogenetic Map12q24.31NCBI
HuRef12118,425,936 - 118,448,929 (+)NCBIHuRef
CHM1_112121,385,205 - 121,409,144 (+)NCBICHM1_1
Hnf1a
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm395115,087,039 - 115,109,121 (-)NCBIGRCm39mm39
GRCm39 Ensembl5115,087,039 - 115,109,153 (-)Ensembl
GRCm385114,948,980 - 114,971,062 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl5114,948,980 - 114,971,094 (-)EnsemblGRCm38mm10GRCm38
MGSCv375115,398,989 - 115,421,071 (-)NCBIGRCm37mm9NCBIm37
MGSCv365115,209,360 - 115,232,037 (-)NCBImm8
Celera5112,043,825 - 112,067,328 (-)NCBICelera
Cytogenetic Map5FNCBI
cM Map555.99NCBI
Hnf1a
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21241,638,536 - 41,672,806 (+)NCBI
Rnor_6.0 Ensembl1247,407,811 - 47,433,342 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01247,407,811 - 47,433,342 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01249,195,096 - 49,226,754 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41242,919,574 - 42,945,670 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11242,782,961 - 42,809,058 (+)NCBI
Celera1243,263,411 - 43,289,196 (+)NCBICelera
Cytogenetic Map12q16NCBI
Hnf1a
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495545510,694,102 - 10,717,613 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495545510,694,102 - 10,717,613 (-)NCBIChiLan1.0ChiLan1.0
HNF1A
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.112121,932,671 - 121,955,911 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl12121,932,671 - 121,955,911 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v012118,562,308 - 118,584,596 (+)NCBIMhudiblu_PPA_v0panPan3
HNF1A
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12616,805,690 - 16,826,065 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2616,805,690 - 16,824,790 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2616,808,158 - 16,828,540 (+)NCBI
ROS_Cfam_1.02617,072,065 - 17,092,444 (+)NCBI
UMICH_Zoey_3.12617,032,447 - 17,052,829 (+)NCBI
UNSW_CanFamBas_1.02617,107,536 - 17,127,938 (+)NCBI
UU_Cfam_GSD_1.02617,150,231 - 17,170,614 (+)NCBI
Hnf1a
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118145,563,569 - 145,582,683 (-)NCBI
SpeTri2.0NW_00493666862,103 - 81,549 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
HNF1A
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1440,868,676 - 40,888,328 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11440,868,819 - 40,888,322 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21443,383,209 - 43,402,712 (+)NCBISscrofa10.2Sscrofa10.2susScr3
HNF1A
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.111116,334,935 - 116,358,582 (+)NCBI
ChlSab1.1 Ensembl11116,335,675 - 116,357,751 (+)Ensembl
Hnf1a
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462474712,717,713 - 12,746,040 (-)NCBI

Position Markers
TCF1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712121,431,425 - 121,432,036UniSTSGRCh37
Build 3612119,915,808 - 119,916,419RGDNCBI36
Celera12121,066,835 - 121,067,446RGD
HuRef12118,440,786 - 118,441,397UniSTS
D12S2088  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712121,439,138 - 121,439,390UniSTSGRCh37
Build 3612119,923,521 - 119,923,773RGDNCBI36
Celera12121,074,558 - 121,074,810RGD
Cytogenetic Map12q24.2UniSTS
HuRef12118,447,752 - 118,448,004UniSTS
GeneMap99-GB4 RH Map12466.91UniSTS
Whitehead-RH Map12584.0UniSTS
Whitehead-YAC Contig Map12 UniSTS
G15717  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712121,439,358 - 121,439,472UniSTSGRCh37
Build 3612119,923,741 - 119,923,855RGDNCBI36
Celera12121,074,778 - 121,074,892RGD
Cytogenetic Map12q24.2UniSTS
HuRef12118,447,972 - 118,448,086UniSTS
D1S1423  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map10p12.1-p11.2UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map6p22.3-p21.32UniSTS
Cytogenetic Map6q22.33UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map7q11.2UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map9q12UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map18q22.1UniSTS
Cytogenetic Map13q12UniSTS
Cytogenetic Map10p14-p13UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map11q23-q24UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map22cen-q12.3UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map15q11.2-q21.3UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map3q25UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map4q28UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map1q41-q42UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map12p13.1-p12.3UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map1p13.1UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map7q33UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map11q24.1UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map3q13UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map1p34-p33UniSTS
Cytogenetic Map3q22.1UniSTS
Cytogenetic Map7p14UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map12q24.2UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map8p23-p22UniSTS
Cytogenetic Map1p12UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map10p12.33UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map3q26UniSTS
Cytogenetic Map9p21.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map5q21.3UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map3q26.31UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic MapXq27.2UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map4q31UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map10q24.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map2p13UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map11q22.1UniSTS
Cytogenetic Map12q14.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map20q11.21-q11.23UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map21p11.1UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map14q32.1UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map4q31.23UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map2p22.3UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map9p12UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map13q33.3UniSTS
Cytogenetic Map15q22-q24UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map4p15.31UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map15q22.1-q22.31UniSTS
Cytogenetic Map1q31-q41UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map12q11-q12UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map4q24UniSTS
Cytogenetic Map1p32UniSTS
Cytogenetic Map3p21.1-p14.2UniSTS
Cytogenetic Map12q22-q23.1UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map6q24.2UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map10pter-q25.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic Map3q28-q29UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map1q32.2-q41UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map22q11UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map11q13.1-q13.3UniSTS
Cytogenetic Map16p13UniSTS
Cytogenetic Map15q26UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map4p15.1-p14UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map5q33.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map7q32.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map15q25.1UniSTS
Cytogenetic Map9p13UniSTS
Cytogenetic Map2p24.2UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map6p24-p22.3UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map3q21-q24UniSTS
Cytogenetic Map4q13UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map5q21.2UniSTS
Cytogenetic Map4q34.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map13q13.3UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map1q31UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map8q24.12UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map6q25.2UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map3q23-q24UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map20pter-p12UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map7p14.2UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map18p11.22UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map14q22.2UniSTS
Cytogenetic Map20p11.22-p11.1UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map11q12-q13UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map6p22-p21UniSTS
Cytogenetic Map17q21.1-q21.3UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map4p15.32UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map12p13.2-p12.3UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map5q22.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map4p15.3UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map12q13.1-q13.2UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map9p22.3UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map6q22.32UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map18q12.2UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map13q33.1UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map10q22.3-q23.2UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map4q21.3UniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map3q12.1UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map2p13.2UniSTS
Cytogenetic Map3p12.3UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map3q11.2UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map6p24.2UniSTS
Cytogenetic Map20q13.33UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:7380
Count of miRNA genes:1078
Interacting mature miRNAs:1346
Transcripts:ENST00000257555, ENST00000400024, ENST00000402929, ENST00000535955, ENST00000538626, ENST00000538646, ENST00000540108, ENST00000541395, ENST00000541924, ENST00000543255, ENST00000543427, ENST00000544413, ENST00000544574, ENST00000560968
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 229 213 213 63 214 155 23 22
Low 851 4 257 237 177 239 184 36 48 191 214 105 5 4
Below cutoff 1143 1473 756 91 903 10 2625 1264 2337 62 963 1022 91 664 1696 3

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_011731 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000545 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001306179 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024449168 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC079602 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH006664 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298422 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW294801 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC104908 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC104910 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC143483 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE348240 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM854591 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF641294 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ550192 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ550193 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ550194 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ550195 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ550196 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ550197 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ550198 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ550199 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ550200 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ550201 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ550202 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ550203 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ550204 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ550205 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ550206 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ550207 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ550208 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM116541 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM116542 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM116543 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM116544 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM116545 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM116546 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM116547 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM116548 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM116549 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM116550 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM116551 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM116552 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM116557 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM116558 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM116559 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM116560 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM116561 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM116562 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM116563 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM449088 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM449089 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT584015 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY773175 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY773176 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY773177 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY773178 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M57732 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U73499 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X71346 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X71347 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000257555   ⟹   ENSP00000257555
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl12120,978,543 - 121,002,512 (+)Ensembl
RefSeq Acc Id: ENST00000400024   ⟹   ENSP00000476181
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl12120,978,568 - 120,998,300 (+)Ensembl
RefSeq Acc Id: ENST00000402929
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl12120,978,634 - 120,998,300 (+)Ensembl
RefSeq Acc Id: ENST00000535955
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl12120,978,651 - 120,997,882 (+)Ensembl
RefSeq Acc Id: ENST00000538626
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl12120,978,651 - 120,997,882 (+)Ensembl
RefSeq Acc Id: ENST00000538646   ⟹   ENSP00000443964
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl12120,978,651 - 120,997,882 (+)Ensembl
RefSeq Acc Id: ENST00000540108   ⟹   ENSP00000445445
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl12120,978,746 - 121,002,512 (+)Ensembl
RefSeq Acc Id: ENST00000541395   ⟹   ENSP00000443112
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl12120,978,746 - 121,002,512 (+)Ensembl
RefSeq Acc Id: ENST00000541924   ⟹   ENSP00000440361
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl12120,978,651 - 120,997,882 (+)Ensembl
RefSeq Acc Id: ENST00000543255
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl12120,996,390 - 120,997,882 (+)Ensembl
RefSeq Acc Id: ENST00000543427   ⟹   ENSP00000439721
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl12120,978,626 - 121,002,509 (+)Ensembl
RefSeq Acc Id: ENST00000544413   ⟹   ENSP00000438804
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl12120,978,749 - 121,001,269 (+)Ensembl
RefSeq Acc Id: ENST00000544574   ⟹   ENSP00000438565
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl12120,978,651 - 120,997,882 (+)Ensembl
RefSeq Acc Id: ENST00000560968   ⟹   ENSP00000453965
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl12120,978,626 - 121,002,509 (+)Ensembl
RefSeq Acc Id: ENST00000615446   ⟹   ENSP00000483994
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl12120,978,626 - 121,002,509 (+)Ensembl
RefSeq Acc Id: ENST00000617366   ⟹   ENSP00000481967
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl12120,978,626 - 121,002,509 (+)Ensembl
RefSeq Acc Id: NM_000545   ⟹   NP_000536
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812120,978,543 - 121,002,512 (+)NCBI
GRCh3712121,415,861 - 121,440,315 (+)NCBI
Build 3612119,900,932 - 119,924,698 (+)NCBI Archive
HuRef12118,425,936 - 118,448,929 (+)ENTREZGENE
CHM1_112121,385,205 - 121,409,144 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001306179   ⟹   NP_001293108
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812120,978,543 - 121,002,512 (+)NCBI
CHM1_112121,385,205 - 121,409,144 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024449168   ⟹   XP_024304936
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812120,977,683 - 121,002,505 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_000536 (Get FASTA)   NCBI Sequence Viewer  
  NP_001293108 (Get FASTA)   NCBI Sequence Viewer  
  XP_024304936 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA88077 (Get FASTA)   NCBI Sequence Viewer  
  AAC51137 (Get FASTA)   NCBI Sequence Viewer  
  AAD14878 (Get FASTA)   NCBI Sequence Viewer  
  AAI04909 (Get FASTA)   NCBI Sequence Viewer  
  AAI04911 (Get FASTA)   NCBI Sequence Viewer  
  ABR09270 (Get FASTA)   NCBI Sequence Viewer  
  ACL15377 (Get FASTA)   NCBI Sequence Viewer  
  ACL15378 (Get FASTA)   NCBI Sequence Viewer  
  ACL15379 (Get FASTA)   NCBI Sequence Viewer  
  ACL15380 (Get FASTA)   NCBI Sequence Viewer  
  ACL15381 (Get FASTA)   NCBI Sequence Viewer  
  ACL15382 (Get FASTA)   NCBI Sequence Viewer  
  ACL15383 (Get FASTA)   NCBI Sequence Viewer  
  ACL15384 (Get FASTA)   NCBI Sequence Viewer  
  ACL15385 (Get FASTA)   NCBI Sequence Viewer  
  ACL15386 (Get FASTA)   NCBI Sequence Viewer  
  ACL15387 (Get FASTA)   NCBI Sequence Viewer  
  ACL15388 (Get FASTA)   NCBI Sequence Viewer  
  ACL15389 (Get FASTA)   NCBI Sequence Viewer  
  ACL15390 (Get FASTA)   NCBI Sequence Viewer  
  ACL15391 (Get FASTA)   NCBI Sequence Viewer  
  ACL15392 (Get FASTA)   NCBI Sequence Viewer  
  ACL15393 (Get FASTA)   NCBI Sequence Viewer  
  ADK56177 (Get FASTA)   NCBI Sequence Viewer  
  ADK56178 (Get FASTA)   NCBI Sequence Viewer  
  ADM43481 (Get FASTA)   NCBI Sequence Viewer  
  ADM43482 (Get FASTA)   NCBI Sequence Viewer  
  ADM43483 (Get FASTA)   NCBI Sequence Viewer  
  ADM43484 (Get FASTA)   NCBI Sequence Viewer  
  ADM43485 (Get FASTA)   NCBI Sequence Viewer  
  ADM43486 (Get FASTA)   NCBI Sequence Viewer  
  ADM43487 (Get FASTA)   NCBI Sequence Viewer  
  ADM43488 (Get FASTA)   NCBI Sequence Viewer  
  ADM43489 (Get FASTA)   NCBI Sequence Viewer  
  ADM43494 (Get FASTA)   NCBI Sequence Viewer  
  ADM43495 (Get FASTA)   NCBI Sequence Viewer  
  ADM43496 (Get FASTA)   NCBI Sequence Viewer  
  ADM43497 (Get FASTA)   NCBI Sequence Viewer  
  ADM43498 (Get FASTA)   NCBI Sequence Viewer  
  AVQ93640 (Get FASTA)   NCBI Sequence Viewer  
  AVQ93641 (Get FASTA)   NCBI Sequence Viewer  
  AVQ93642 (Get FASTA)   NCBI Sequence Viewer  
  AVQ93643 (Get FASTA)   NCBI Sequence Viewer  
  BAG60646 (Get FASTA)   NCBI Sequence Viewer  
  CAB59201 (Get FASTA)   NCBI Sequence Viewer  
  EAW98226 (Get FASTA)   NCBI Sequence Viewer  
  EAW98227 (Get FASTA)   NCBI Sequence Viewer  
  EAW98228 (Get FASTA)   NCBI Sequence Viewer  
  P20823 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_000536   ⟸   NM_000545
- Peptide Label: isoform 2
- Sequence:
RefSeq Acc Id: NP_001293108   ⟸   NM_001306179
- Peptide Label: isoform 1
- Sequence:
RefSeq Acc Id: XP_024304936   ⟸   XM_024449168
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000443112   ⟸   ENST00000541395
RefSeq Acc Id: ENSP00000440361   ⟸   ENST00000541924
RefSeq Acc Id: ENSP00000439721   ⟸   ENST00000543427
RefSeq Acc Id: ENSP00000438804   ⟸   ENST00000544413
RefSeq Acc Id: ENSP00000438565   ⟸   ENST00000544574
RefSeq Acc Id: ENSP00000257555   ⟸   ENST00000257555
RefSeq Acc Id: ENSP00000476181   ⟸   ENST00000400024
RefSeq Acc Id: ENSP00000453965   ⟸   ENST00000560968
RefSeq Acc Id: ENSP00000483994   ⟸   ENST00000615446
RefSeq Acc Id: ENSP00000481967   ⟸   ENST00000617366
RefSeq Acc Id: ENSP00000443964   ⟸   ENST00000538646
RefSeq Acc Id: ENSP00000445445   ⟸   ENST00000540108
Protein Domains
HNF-1_N   HNF-1A_C   HNF-1B_C   Homeobox

Promoters
RGD ID:7225635
Promoter ID:EPDNEW_H18563
Type:initiation region
Name:HNF1A_1
Description:HNF1 homeobox A
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H18564  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812120,978,543 - 120,978,603EPDNEW
RGD ID:7225637
Promoter ID:EPDNEW_H18564
Type:initiation region
Name:HNF1A_2
Description:HNF1 homeobox A
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H18563  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812120,978,670 - 120,978,730EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000545.6(HNF1A):c.788_789GT[1] (p.Val264fs) microsatellite not provided [RCV000517323] Chr12:120994238..120994239 [GRCh38]
Chr12:121432041..121432042 [GRCh37]
Chr12:12q24.31
pathogenic
NM_000545.6(HNF1A):c.814C>T (p.Arg272Cys) single nucleotide variant Diabetes mellitus type 1 [RCV000762889]|not provided [RCV000516588] Chr12:120994264 [GRCh38]
Chr12:121432067 [GRCh37]
Chr12:12q24.31
pathogenic
NM_000545.6(HNF1A):c.326+2T>G single nucleotide variant not provided [RCV000518275] Chr12:120979096 [GRCh38]
Chr12:121416899 [GRCh37]
Chr12:12q24.31
pathogenic
NM_000545.6(HNF1A):c.485T>C (p.Leu162Pro) single nucleotide variant not specified [RCV000518813] Chr12:120988991 [GRCh38]
Chr12:121426794 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000545.6(HNF1A):c.710A>C (p.Asn237Thr) single nucleotide variant not specified [RCV000517217] Chr12:120993703 [GRCh38]
Chr12:121431506 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000545.6(HNF1A):c.620G>A (p.Gly207Asp) single nucleotide variant not specified [RCV000516291] Chr12:120993613 [GRCh38]
Chr12:121431416 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000545.6(HNF1A):c.150C>T (p.Cys50=) single nucleotide variant Maturity-onset diabetes of the young, type 3 [RCV000030484] Chr12:120978918 [GRCh38]
Chr12:121416721 [GRCh37]
Chr12:12q24.31
likely benign
NM_000545.6(HNF1A):c.1539C>T (p.Thr513=) single nucleotide variant Maturity-onset diabetes of the young, type 3 [RCV000030485]|not specified [RCV000501143] Chr12:120999305 [GRCh38]
Chr12:121437108 [GRCh37]
Chr12:12q24.31
likely benign|uncertain significance
NM_000545.6(HNF1A):c.1624-15G>A single nucleotide variant Diabetes mellitus, insulin-dependent, 20 [RCV001294192]|Maturity-onset diabetes of the young, type 3 [RCV000030486]|not specified [RCV000436765] Chr12:120999468 [GRCh38]
Chr12:121437271 [GRCh37]
Chr12:12q24.31
likely benign|uncertain significance
NM_000545.6(HNF1A):c.1624-19G>A single nucleotide variant Maturity-onset diabetes of the young, type 3 [RCV000030487]|not specified [RCV000242135] Chr12:120999464 [GRCh38]
Chr12:121437267 [GRCh37]
Chr12:12q24.31
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000545.6(HNF1A):c.1663C>T (p.Leu555Phe) single nucleotide variant Maturity-onset diabetes of the young, type 3 [RCV000030488] Chr12:120999522 [GRCh38]
Chr12:121437325 [GRCh37]
Chr12:12q24.31
likely pathogenic
NM_000545.6(HNF1A):c.169del (p.Leu57fs) deletion Maturity-onset diabetes of the young, type 3 [RCV000030489] Chr12:120978937 [GRCh38]
Chr12:121416740 [GRCh37]
Chr12:12q24.31
likely pathogenic
NM_000545.8(HNF1A):c.1720A>G (p.Ser574Gly) single nucleotide variant Maturity-onset diabetes of the young, type 3 [RCV000030490]|not specified [RCV000121200] Chr12:120999579 [GRCh38]
Chr12:121437382 [GRCh37]
Chr12:12q24.31
benign|not provided
NM_000545.6(HNF1A):c.1745A>G (p.His582Arg) single nucleotide variant Maturity-onset diabetes of the young, type 3 [RCV000030491]|Monogenic diabetes [RCV001248914] Chr12:120999604 [GRCh38]
Chr12:121437407 [GRCh37]
Chr12:12q24.31
likely pathogenic|uncertain significance
NM_000545.6(HNF1A):c.1768+65dup duplication Maturity-onset diabetes of the young, type 3 [RCV000030493] Chr12:120999688..120999689 [GRCh38]
Chr12:121437491..121437492 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_022895.3(C12orf43):c.*3003G>C single nucleotide variant Maturity-onset diabetes of the young, type 3 [RCV000030494]|not provided [RCV001288068]|not specified [RCV000121192] Chr12:121001150 [GRCh38]
Chr12:121438953 [GRCh37]
Chr12:12q24.31
likely pathogenic|uncertain significance|not provided
NM_000545.6(HNF1A):c.1A>G (p.Met1Val) single nucleotide variant Maturity-onset diabetes of the young, type 3 [RCV000030495]|not provided [RCV000516455] Chr12:120978769 [GRCh38]
Chr12:121416572 [GRCh37]
Chr12:12q24.31
pathogenic|likely pathogenic
NM_000545.6(HNF1A):c.252C>T (p.Pro84=) single nucleotide variant Maturity-onset diabetes of the young, type 3 [RCV000030496]|not provided [RCV000861382]|not specified [RCV000121189] Chr12:120979020 [GRCh38]
Chr12:121416823 [GRCh37]
Chr12:12q24.31
benign|likely benign|not provided
NM_000545.6(HNF1A):c.281C>T (p.Pro94Leu) single nucleotide variant Maturity-onset diabetes of the young, type 3 [RCV000030497] Chr12:120979049 [GRCh38]
Chr12:121416852 [GRCh37]
Chr12:12q24.31
likely pathogenic
NM_000545.6(HNF1A):c.313dup (p.Glu105fs) duplication Maturity-onset diabetes of the young, type 3 [RCV000030498] Chr12:120979079..120979080 [GRCh38]
Chr12:121416882..121416883 [GRCh37]
Chr12:12q24.31
likely pathogenic
NM_000545.6(HNF1A):c.326+20C>A single nucleotide variant not specified [RCV000428808] Chr12:120979114 [GRCh38]
Chr12:121416917 [GRCh37]
Chr12:12q24.31
benign
NM_000545.6(HNF1A):c.326+4A>G single nucleotide variant Maturity-onset diabetes of the young, type 3 [RCV000030500] Chr12:120979098 [GRCh38]
Chr12:121416901 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000545.6(HNF1A):c.369_371GCA[4] (p.Gln125dup) microsatellite Maturity-onset diabetes of the young, type 3 [RCV000030501] Chr12:120988874..120988875 [GRCh38]
Chr12:121426677..121426678 [GRCh37]
Chr12:12q24.31
likely pathogenic
NM_000545.6(HNF1A):c.441C>A (p.His147Gln) single nucleotide variant Maturity-onset diabetes of the young, type 3 [RCV000030502] Chr12:120988947 [GRCh38]
Chr12:121426750 [GRCh37]
Chr12:12q24.31
likely pathogenic
NM_000545.6(HNF1A):c.467C>T (p.Thr156Met) single nucleotide variant Maturity-onset diabetes of the young, type 3 [RCV000030503]|Monogenic diabetes [RCV001174361] Chr12:120988973 [GRCh38]
Chr12:121426776 [GRCh37]
Chr12:12q24.31
likely pathogenic|uncertain significance
NM_000545.6(HNF1A):c.518_526+37del deletion Maturity-onset diabetes of the young, type 3 [RCV000030504] Chr12:120989020..120989065 [GRCh38]
Chr12:121426823..121426868 [GRCh37]
Chr12:12q24.31
likely pathogenic
NM_000545.5(HNF1A):c.598C>T (p.Arg200Trp) single nucleotide variant Maturity-onset diabetes of the young, type 3 [RCV000030505] Chr12:120993591 [GRCh38]
Chr12:121431394 [GRCh37]
Chr12:12q24.31
likely pathogenic
NM_000545.6(HNF1A):c.663_665GAA[1] (p.Lys222del) microsatellite Maturity-onset diabetes of the young, type 3 [RCV000030506] Chr12:120993655..120993657 [GRCh38]
Chr12:121431458..121431460 [GRCh37]
Chr12:12q24.31
likely pathogenic
NM_000545.6(HNF1A):c.670C>T (p.Pro224Ser) single nucleotide variant Maturity-onset diabetes of the young, type 3 [RCV000030507] Chr12:120993663 [GRCh38]
Chr12:121431466 [GRCh37]
Chr12:12q24.31
likely pathogenic
NM_000545.6(HNF1A):c.713+14C>T single nucleotide variant Maturity-onset diabetes of the young, type 3 [RCV000030508] Chr12:120993720 [GRCh38]
Chr12:121431523 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000545.6(HNF1A):c.731G>T (p.Arg244Ile) single nucleotide variant Maturity-onset diabetes of the young, type 3 [RCV000030509] Chr12:120994181 [GRCh38]
Chr12:121431984 [GRCh37]
Chr12:12q24.31
likely pathogenic
NM_000545.6(HNF1A):c.734G>T (p.Gly245Val) single nucleotide variant Maturity-onset diabetes of the young, type 3 [RCV000030510]|not provided [RCV000993273] Chr12:120994184 [GRCh38]
Chr12:121431987 [GRCh37]
Chr12:12q24.31
likely pathogenic|uncertain significance
NM_000545.6(HNF1A):c.790G>T (p.Val264Phe) single nucleotide variant Maturity-onset diabetes of the young, type 3 [RCV000030511] Chr12:120994240 [GRCh38]
Chr12:121432043 [GRCh37]
Chr12:12q24.31
likely pathogenic
NM_000545.6(HNF1A):c.803T>C (p.Phe268Ser) single nucleotide variant Maturity-onset diabetes of the young, type 3 [RCV000030512] Chr12:120994253 [GRCh38]
Chr12:121432056 [GRCh37]
Chr12:12q24.31
likely pathogenic
NM_000545.6(HNF1A):c.827C>G (p.Ala276Gly) single nucleotide variant Maturity-onset diabetes of the young, type 3 [RCV000030513]|Monogenic diabetes [RCV001248911]|not provided [RCV000441328] Chr12:120994277 [GRCh38]
Chr12:121432080 [GRCh37]
Chr12:12q24.31
likely pathogenic|uncertain significance
NM_000545.6(HNF1A):c.872C>G (p.Pro291Arg) single nucleotide variant Maturity-onset diabetes of the young, type 3 [RCV000030514]|Monogenic diabetes [RCV001248913] Chr12:120994322 [GRCh38]
Chr12:121432125 [GRCh37]
Chr12:12q24.31
likely pathogenic|uncertain significance
NM_000545.6(HNF1A):c.954C>T (p.His318=) single nucleotide variant Maturity-onset diabetes of the young, type 3 [RCV000030515]|not provided [RCV000865977] Chr12:120994404 [GRCh38]
Chr12:121432207 [GRCh37]
Chr12:12q24.31
likely benign|uncertain significance
NM_000545.6(HNF1A):c.965A>G (p.Tyr322Cys) single nucleotide variant Maturity-onset diabetes of the young, type 3 [RCV000030516]|Monogenic diabetes [RCV000445387]|not provided [RCV000993275]|not specified [RCV000121196] Chr12:120996271 [GRCh38]
Chr12:121434074 [GRCh37]
Chr12:12q24.31
likely pathogenic|likely benign|uncertain significance|not provided
NM_000545.6(HNF1A):c.1309+86TCAT[6] microsatellite not provided [RCV000836330]|not specified [RCV000119856] Chr12:120996827..120996828 [GRCh38]
Chr12:121434630..121434631 [GRCh37]
Chr12:12q24.31
benign|not provided
NM_000545.6(HNF1A):c.155_156delinsCT (p.Gly52Ala) indel not specified [RCV000121186] Chr12:120978923..120978924 [GRCh38]
Chr12:121416726..121416727 [GRCh37]
Chr12:12q24.31
not provided
NM_000545.6(HNF1A):c.1729C>G (p.His577Asp) single nucleotide variant Maturity-onset diabetes of the young, type 3 [RCV001112248]|not specified [RCV000121198] Chr12:120999588 [GRCh38]
Chr12:121437391 [GRCh37]
Chr12:12q24.31
uncertain significance|not provided
NM_000545.6(HNF1A):c.1720_1733delGGCATCCAGCACCTinsGGCATCCAGCACC (p.Leu578Argfs) deletion not specified [RCV000121199] Chr12:120999592 [GRCh38]
Chr12:121437395 [GRCh37]
Chr12:12q24.31
not provided
NM_000545.6(HNF1A):c.1309+86TCAT[5] microsatellite not specified [RCV000122357] Chr12:120996827..120996828 [GRCh38]
Chr12:121434630..121434631 [GRCh37]
Chr12:12q24.31
not provided
NM_000545.6(HNF1A):c.1309+86TCAT[7] microsatellite not specified [RCV000122358] Chr12:120996827..120996828 [GRCh38]
Chr12:121434630..121434631 [GRCh37]
Chr12:12q24.31
not provided
NM_000545.6(HNF1A):c.1309+184dup duplication not specified [RCV000122359] Chr12:120996922..120996923 [GRCh38]
Chr12:121434725..121434726 [GRCh37]
Chr12:12q24.31
not provided
NM_000545.6(HNF1A):c.1107+9C>G single nucleotide variant Maturity-onset diabetes of the young, type 3 [RCV000030475]|not provided [RCV000861724]|not specified [RCV001289314] Chr12:120996422 [GRCh38]
Chr12:121434225 [GRCh37]
Chr12:12q24.31
benign|likely benign
NM_000545.6(HNF1A):c.1129del (p.Leu377fs) deletion Maturity-onset diabetes of the young, type 3 [RCV000030476] Chr12:120996558 [GRCh38]
Chr12:121434361 [GRCh37]
Chr12:12q24.31
likely pathogenic
NM_000545.6(HNF1A):c.1265T>C (p.Leu422Pro) single nucleotide variant Maturity-onset diabetes of the young, type 3 [RCV000030477] Chr12:120996698 [GRCh38]
Chr12:121434501 [GRCh37]
Chr12:12q24.31
likely pathogenic
NM_000545.6(HNF1A):c.130del (p.Leu44fs) deletion Maturity-onset diabetes of the young, type 3 [RCV000030478] Chr12:120978894 [GRCh38]
Chr12:121416697 [GRCh37]
Chr12:12q24.31
pathogenic
NM_000545.6(HNF1A):c.1310-12C>T single nucleotide variant Maturity-onset diabetes of the young, type 3 [RCV000030479]|not specified [RCV000516807] Chr12:120997462 [GRCh38]
Chr12:121435265 [GRCh37]
Chr12:12q24.31
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000545.6(HNF1A):c.1323G>A (p.Thr441=) single nucleotide variant Maturity-onset diabetes of the young, type 3 [RCV000030480]|not provided [RCV000862216]|not specified [RCV000612003] Chr12:120997487 [GRCh38]
Chr12:121435290 [GRCh37]
Chr12:12q24.31
benign|likely benign
NM_000545.6(HNF1A):c.1424C>T (p.Pro475Leu) single nucleotide variant Maturity-onset diabetes of the young, type 3 [RCV000030481]|Monogenic diabetes [RCV001248915]|not provided [RCV000993264] Chr12:120997588 [GRCh38]
Chr12:121435391 [GRCh37]
Chr12:12q24.31
likely pathogenic|uncertain significance
NM_000545.6(HNF1A):c.1502-7C>T single nucleotide variant Maturity-onset diabetes of the young, type 3 [RCV000030482]|not provided [RCV000861641] Chr12:120999261 [GRCh38]
Chr12:121437064 [GRCh37]
Chr12:12q24.31
benign|uncertain significance
NM_000545.6(HNF1A):c.1504_1505CT[3] (p.Tyr503fs) microsatellite Maturity-onset diabetes of the young, type 3 [RCV000030483] Chr12:120999269..120999270 [GRCh38]
Chr12:121437072..121437073 [GRCh37]
Chr12:12q24.31
likely pathogenic
NM_000545.6(HNF1A):c.872dup (p.Gly292fs) duplication Clear cell carcinoma of kidney [RCV000016063]|Diabetes mellitus type 1 [RCV000117225]|Diabetes mellitus, insulin-dependent, 20 [RCV001255183]|Hepatic adenomas, familial [RCV000022617]|Maturity-onset diabetes of the young, type 3 [RCV000016062]|not provided [RCV000490055] Chr12:120994314..120994315 [GRCh38]
Chr12:121432117..121432118 [GRCh37]
Chr12:12q24.31
pathogenic|other
NM_000545.6(HNF1A):c.1340C>T (p.Pro447Leu) single nucleotide variant Diabetes mellitus type 1 [RCV000762891]|Maturity-onset diabetes of the young, type 3 [RCV000016065]|not provided [RCV000713784] Chr12:120997504 [GRCh38]
Chr12:121435307 [GRCh37]
Chr12:12q24.31
pathogenic
HNF1A, 1-BP DEL deletion Maturity-onset diabetes of the young, type 3 [RCV000016066] Chr12:12q24.2 pathogenic
NM_000545.6(HNF1A):c.365A>G (p.Tyr122Cys) single nucleotide variant Maturity-onset diabetes of the young, type 3 [RCV000016067] Chr12:120988871 [GRCh38]
Chr12:121426674 [GRCh37]
Chr12:12q24.31
pathogenic
NM_000545.6(HNF1A):c.815G>A (p.Arg272His) single nucleotide variant Diabetes mellitus, insulin-dependent, 20 [RCV000016068]|Monogenic diabetes [RCV000445525]|not provided [RCV000255916] Chr12:120994265 [GRCh38]
Chr12:121432068 [GRCh37]
Chr12:12q24.31
pathogenic
NM_000545.6(HNF1A):c.1747C>G (p.Arg583Gly) single nucleotide variant Diabetes mellitus, insulin-dependent, 20 [RCV000016069]|Maturity-onset diabetes of the young, type 3 [RCV000030492] Chr12:120999606 [GRCh38]
Chr12:121437409 [GRCh37]
Chr12:12q24.31
pathogenic|likely pathogenic|uncertain significance|not provided
HNF1A, A-C, -58, PROMOTER single nucleotide variant Maturity-onset diabetes of the young, type 3 [RCV000016070] Chr12:12q24.2 pathogenic
NM_000545.6(HNF1A):c.955G>A (p.Gly319Ser) single nucleotide variant Diabetes mellitus type 2, susceptibility to [RCV000016071] Chr12:120994405 [GRCh38]
Chr12:121432208 [GRCh37]
Chr12:12q24.31
risk factor
NM_022895.3(C12orf43):c.*2998G>A single nucleotide variant Maturity-onset diabetes of the young, type 3 [RCV000016072] Chr12:121001155 [GRCh38]
Chr12:121438958 [GRCh37]
Chr12:12q24.31
pathogenic
HNF1A, 1-BP DEL, -119G, PROMOTER deletion Maturity-onset diabetes of the young, type 3 [RCV000016073] Chr12:12q24.2 pathogenic
NM_000545.6(HNF1A):c.79A>C (p.Ile27Leu) single nucleotide variant Insulin resistance, susceptibility to [RCV000016074]|Maturity-onset diabetes of the young, type 3 [RCV000988920]|SERUM HDL CHOLESTEROL LEVEL, MODIFIER OF [RCV000016075]|not provided [RCV000710268]|not specified [RCV000117233] Chr12:120978847 [GRCh38]
Chr12:121416650 [GRCh37]
Chr12:12q24.31
risk factor|benign|likely benign|conflicting interpretations of pathogenicity|not provided
NM_000545.6(HNF1A):c.142del (p.Glu48fs) deletion Diabetes mellitus, insulin-dependent, 20 [RCV000016076] Chr12:120978906 [GRCh38]
Chr12:121416709 [GRCh37]
Chr12:12q24.31
pathogenic
NM_000545.6(HNF1A):c.1720G>A (p.Gly574Ser) single nucleotide variant Maturity-onset diabetes of the young, type 3 [RCV000016077]|not provided [RCV000861653]|not specified [RCV000438436] Chr12:120999579 [GRCh38]
Chr12:121437382 [GRCh37]
Chr12:12q24.31
pathogenic|benign
NM_000545.8(HNF1A):c.1748G>A (p.Arg583Gln) single nucleotide variant Maturity-onset diabetes of the young, type 3 [RCV000016078]|not provided [RCV000658670]|not specified [RCV000455019] Chr12:120999607 [GRCh38]
Chr12:121437410 [GRCh37]
Chr12:12q24.31
pathogenic|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
NM_000545.6(HNF1A):c.714-1G>A single nucleotide variant Maturity-onset diabetes of the young, type 3 [RCV000016079] Chr12:120994163 [GRCh38]
Chr12:121431966 [GRCh37]
Chr12:12q24.31
pathogenic
NM_000545.6(HNF1A):c.335C>T (p.Pro112Leu) single nucleotide variant Maturity-onset diabetes of the young, type 3 [RCV000016080]|not provided [RCV000517471] Chr12:120988841 [GRCh38]
Chr12:121426644 [GRCh37]
Chr12:12q24.31
pathogenic
NM_000545.6(HNF1A):c.391C>T (p.Arg131Trp) single nucleotide variant Maturity-onset diabetes of the young, type 3 [RCV000016081]|not provided [RCV000441594] Chr12:120988897 [GRCh38]
Chr12:121426700 [GRCh37]
Chr12:12q24.31
pathogenic
HNF1A, 4-BP DEL deletion Maturity-onset diabetes of the young, type 3 [RCV000016082] Chr12:12q24.2 pathogenic
NM_000545.6(HNF1A):c.827C>A (p.Ala276Asp) single nucleotide variant Maturity-onset diabetes of the young, type 3 [RCV000016083]|Monogenic diabetes [RCV001248962]|not provided [RCV000521190] Chr12:120994277 [GRCh38]
Chr12:121432080 [GRCh37]
Chr12:12q24.31
pathogenic|likely pathogenic|uncertain significance
HNF1A, 2-BP DEL, AG deletion Maturity-onset diabetes of the young, type 3 [RCV000016084] Chr12:12q24.2 pathogenic
NM_000545.6(HNF1A):c.1592G>C (p.Ser531Thr) single nucleotide variant Maturity-onset diabetes of the young, type 3 [RCV000016085] Chr12:120999358 [GRCh38]
Chr12:121437161 [GRCh37]
Chr12:12q24.31
pathogenic|uncertain significance
NM_000545.6(HNF1A):c.92G>A (p.Gly31Asp) single nucleotide variant Chromophobe renal cell carcinoma [RCV000016088]|Clear cell carcinoma of kidney [RCV000016087]|Diabetes mellitus type 1 [RCV000763797]|Maturity-onset diabetes of the young, type 3 [RCV000016086]|none provided [RCV001285144]|not provided [RCV000835061]|not specified [RCV000503110] Chr12:120978860 [GRCh38]
Chr12:121416663 [GRCh37]
Chr12:12q24.31
pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000545.6(HNF1A):c.1378C>T (p.Gln460Ter) single nucleotide variant not provided [RCV000627329] Chr12:120997542 [GRCh38]
Chr12:121435345 [GRCh37]
Chr12:12q24.31
pathogenic
NM_000545.6(HNF1A):c.242T>C (p.Phe81Ser) single nucleotide variant not provided [RCV000722872] Chr12:120979010 [GRCh38]
Chr12:121416813 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000545.6(HNF1A):c.812G>A (p.Arg271Gln) single nucleotide variant Diabetes mellitus [RCV001175315]|not provided [RCV000519064] Chr12:120994262 [GRCh38]
Chr12:121432065 [GRCh37]
Chr12:12q24.31
pathogenic
NM_000545.6(HNF1A):c.1593C>T (p.Ser531=) single nucleotide variant not specified [RCV000516356] Chr12:120999359 [GRCh38]
Chr12:121437162 [GRCh37]
Chr12:12q24.31
likely benign
NM_000545.6(HNF1A):c.392G>T (p.Arg131Leu) single nucleotide variant not specified [RCV000516642] Chr12:120988898 [GRCh38]
Chr12:121426701 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000545.6(HNF1A):c.4del (p.Val2fs) deletion not provided [RCV000518587] Chr12:120978771 [GRCh38]
Chr12:121416574 [GRCh37]
Chr12:12q24.31
pathogenic
GRCh38/hg38 12q24.23-24.33(chr12:118165459-133182322)x3 copy number gain See cases [RCV000050866] Chr12:118165459..133182322 [GRCh38]
Chr12:118603264..133758908 [GRCh37]
Chr12:117087647..132268981 [NCBI36]
Chr12:12q24.23-24.33
pathogenic
GRCh38/hg38 12q24.31(chr12:120504068-122459718)x1 copy number loss See cases [RCV000051342] Chr12:120504068..122459718 [GRCh38]
Chr12:120941871..122944265 [GRCh37]
Chr12:119426254..121510218 [NCBI36]
Chr12:12q24.31
pathogenic
GRCh38/hg38 12q24.23-24.31(chr12:119286893-122638552)x3 copy number gain See cases [RCV000051981] Chr12:119286893..122638552 [GRCh38]
Chr12:119724698..123123099 [GRCh37]
Chr12:118209081..121689052 [NCBI36]
Chr12:12q24.23-24.31
uncertain significance
GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)x3 copy number gain See cases [RCV000053689] Chr12:115131583..133166920 [GRCh38]
Chr12:115569388..133743506 [GRCh37]
Chr12:114053771..132253579 [NCBI36]
Chr12:12q24.21-24.33
pathogenic
GRCh38/hg38 12q24.23-24.33(chr12:119417382-133191400)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053691]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053691]|See cases [RCV000053691] Chr12:119417382..133191400 [GRCh38]
Chr12:119855187..133767986 [GRCh37]
Chr12:118339570..132278059 [NCBI36]
Chr12:12q24.23-24.33
pathogenic
NM_000545.6(HNF1A):c.866C>T (p.Pro289Leu) single nucleotide variant Malignant melanoma [RCV000069854] Chr12:120994316 [GRCh38]
Chr12:121432119 [GRCh37]
Chr12:119916502 [NCBI36]
Chr12:12q24.31
not provided
NM_000545.6(HNF1A):c.941C>T (p.Pro314Leu) single nucleotide variant Malignant melanoma [RCV000069855] Chr12:120994391 [GRCh38]
Chr12:121432194 [GRCh37]
Chr12:119916577 [NCBI36]
Chr12:12q24.31
not provided
NM_000545.6(HNF1A):c.152G>T (p.Gly51Val) single nucleotide variant Monogenic diabetes [RCV000664140] Chr12:120978920 [GRCh38]
Chr12:121416723 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000545.6(HNF1A):c.1114G>A (p.Ala372Thr) single nucleotide variant not provided [RCV000117223] Chr12:120996547 [GRCh38]
Chr12:121434350 [GRCh37]
Chr12:12q24.31
uncertain significance
HNF1A:c.872dupC (p.Gly292Argfs) duplication Diabetes mellitus type 1 [RCV000117225] Chr12:120994322..120994323 [GRCh38]
Chr12:121432125..121432126 [GRCh37]
Chr12:12q24.31
pathogenic
NM_000545.6(HNF1A):c.608G>A (p.Arg203His) single nucleotide variant Diabetes mellitus type 1 [RCV000117232]|not provided [RCV000430669] Chr12:120993601 [GRCh38]
Chr12:121431404 [GRCh37]
Chr12:12q24.31
likely pathogenic
NM_000545.6(HNF1A):c.276C>T (p.Leu92=) single nucleotide variant Maturity-onset diabetes of the young, type 3 [RCV000362293]|not provided [RCV000864595]|not specified [RCV000117224] Chr12:120979044 [GRCh38]
Chr12:121416847 [GRCh37]
Chr12:12q24.31
benign|likely benign
NM_000545.6(HNF1A):c.1375C>T (p.Leu459=) single nucleotide variant Maturity-onset diabetes of the young, type 3 [RCV000373115]|not provided [RCV000710264]|not specified [RCV000117226] Chr12:120997539 [GRCh38]
Chr12:121435342 [GRCh37]
Chr12:12q24.31
benign|likely benign|conflicting interpretations of pathogenicity
NM_000545.6(HNF1A):c.1460G>A (p.Ser487Asn) single nucleotide variant Maturity-onset diabetes of the young, type 3 [RCV000320780]|not provided [RCV000710265]|not specified [RCV000117227] Chr12:120997624 [GRCh38]
Chr12:121435427 [GRCh37]
Chr12:12q24.31
benign|likely benign|conflicting interpretations of pathogenicity|not provided
NM_000545.6(HNF1A):c.1501+7G>A single nucleotide variant Maturity-onset diabetes of the young, type 3 [RCV000377703]|not provided [RCV000710266]|not specified [RCV000117228] Chr12:120997672 [GRCh38]
Chr12:121435475 [GRCh37]
Chr12:12q24.31
benign|likely benign|conflicting interpretations of pathogenicity|not provided
NM_000545.6(HNF1A):c.1545G>A (p.Thr515=) single nucleotide variant Maturity-onset diabetes of the young, type 3 [RCV000342799]|not specified [RCV000117229] Chr12:120999311 [GRCh38]
Chr12:121437114 [GRCh37]
Chr12:12q24.31
benign|likely benign|conflicting interpretations of pathogenicity
NM_000545.6(HNF1A):c.293C>T (p.Ala98Val) single nucleotide variant Maturity-onset diabetes of the young, type 3 [RCV000391875]|Monogenic diabetes [RCV000445439]|not provided [RCV000713791]|not specified [RCV000117230] Chr12:120979061 [GRCh38]
Chr12:121416864 [GRCh37]
Chr12:12q24.31
benign|likely benign
NM_000545.6(HNF1A):c.51C>G (p.Leu17=) single nucleotide variant Maturity-onset diabetes of the young, type 3 [RCV000340336]|not provided [RCV000710267]|not specified [RCV000117231] Chr12:120978819 [GRCh38]
Chr12:121416622 [GRCh37]
Chr12:12q24.31
benign|likely benign|conflicting interpretations of pathogenicity
NM_000545.6(HNF1A):c.864G>C (p.Gly288=) single nucleotide variant Maturity-onset diabetes of the young, type 3 [RCV000331151]|not specified [RCV000117234] Chr12:120994314 [GRCh38]
Chr12:121432117 [GRCh37]
Chr12:12q24.31
benign
NM_000545.6(HNF1A):c.210C>T (p.Ser70=) single nucleotide variant not provided [RCV000864048]|not specified [RCV000121187] Chr12:120978978 [GRCh38]
Chr12:121416781 [GRCh37]
Chr12:12q24.31
benign|not provided
NM_000545.6(HNF1A):c.225C>T (p.Asp75=) single nucleotide variant not provided [RCV000868182]|not specified [RCV000121188] Chr12:120978993 [GRCh38]
Chr12:121416796 [GRCh37]
Chr12:12q24.31
likely benign|not provided
NM_000545.6(HNF1A):c.73G>A (p.Ala25Thr) single nucleotide variant not specified [RCV000121190] Chr12:120978841 [GRCh38]
Chr12:121416644 [GRCh37]
Chr12:12q24.31
not provided
NM_022895.3(C12orf43):c.*2961T>C single nucleotide variant not specified [RCV000121191] Chr12:121001192 [GRCh38]
Chr12:121438995 [GRCh37]
Chr12:12q24.31
not provided
NM_000545.6(HNF1A):c.341G>A (p.Arg114His) single nucleotide variant not specified [RCV000121193] Chr12:120988847 [GRCh38]
Chr12:121426650 [GRCh37]
Chr12:12q24.31
uncertain significance|not provided
NM_000545.6(HNF1A):c.557T>C (p.Ile186Thr) single nucleotide variant not specified [RCV000121194] Chr12:120993550 [GRCh38]
Chr12:121431353 [GRCh37]
Chr12:12q24.31
not provided
NM_000545.8(HNF1A):c.716C>T (p.Ala239Val) single nucleotide variant Maturity-onset diabetes of the young, type 3 [RCV000988921]|not specified [RCV000121195] Chr12:120994166 [GRCh38]
Chr12:121431969 [GRCh37]
Chr12:12q24.31
uncertain significance|not provided
NM_000545.6(HNF1A):c.1165T>G (p.Leu389Val) single nucleotide variant Maturity-onset diabetes of the young, type 3 [RCV000988923]|Monogenic diabetes [RCV000445458]|not provided [RCV000835062]|not specified [RCV000121197] Chr12:120996598 [GRCh38]
Chr12:121434401 [GRCh37]
Chr12:12q24.31
benign|likely benign|not provided
NM_000545.6(HNF1A):c.1522G>A (p.Glu508Lys) single nucleotide variant Maturity-onset diabetes of the young, type 3 [RCV000988924]|Type 2 diabetes mellitus [RCV000122743]|not provided [RCV000517019] Chr12:120999288 [GRCh38]
Chr12:121437091 [GRCh37]
Chr12:12q24.31
likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000545.6(HNF1A):c.1309+187T>A single nucleotide variant not specified [RCV000122360] Chr12:120996929 [GRCh38]
Chr12:121434732 [GRCh37]
Chr12:12q24.31
not provided
NM_000545.6(HNF1A):c.1309+238G>A single nucleotide variant not specified [RCV000122361] Chr12:120996980 [GRCh38]
Chr12:121434783 [GRCh37]
Chr12:12q24.31
not provided
NM_000545.6(HNF1A):c.1309+247G>A single nucleotide variant not specified [RCV000122362] Chr12:120996989 [GRCh38]
Chr12:121434792 [GRCh37]
Chr12:12q24.31
not provided
NM_000545.6(HNF1A):c.1623+23C>T single nucleotide variant not specified [RCV000122363] Chr12:120999412 [GRCh38]
Chr12:121437215 [GRCh37]
Chr12:12q24.31
not provided
NM_000545.6(HNF1A):c.1623+29T>C single nucleotide variant not specified [RCV000122364] Chr12:120999418 [GRCh38]
Chr12:121437221 [GRCh37]
Chr12:12q24.31
not provided
NM_000545.6(HNF1A):c.1624-30C>T single nucleotide variant not specified [RCV000122365] Chr12:120999453 [GRCh38]
Chr12:121437256 [GRCh37]
Chr12:12q24.31
not provided
NM_000545.6(HNF1A):c.1624-29G>A single nucleotide variant not specified [RCV000122366] Chr12:120999454 [GRCh38]
Chr12:121437257 [GRCh37]
Chr12:12q24.31
not provided
NM_000545.6(HNF1A):c.1309+52C>T single nucleotide variant not specified [RCV000119855] Chr12:120996794 [GRCh38]
Chr12:121434597 [GRCh37]
Chr12:12q24.31
not provided
GRCh38/hg38 12q24.31-24.33(chr12:120697672-133202490)x3 copy number gain See cases [RCV000137651] Chr12:120697672..133202490 [GRCh38]
Chr12:121135475..133779076 [GRCh37]
Chr12:119619858..132289149 [NCBI36]
Chr12:12q24.31-24.33
pathogenic
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 copy number gain See cases [RCV000139555] Chr12:121271..133196807 [GRCh38]
Chr12:282465..133773393 [GRCh37]
Chr12:100698..132283466 [NCBI36]
Chr12:12p13.33-q24.33
pathogenic
GRCh38/hg38 12q24.31-24.32(chr12:120718786-127500215)x1 copy number loss See cases [RCV000142454] Chr12:120718786..127500215 [GRCh38]
Chr12:121156589..127984760 [GRCh37]
Chr12:119640972..126550713 [NCBI36]
Chr12:12q24.31-24.32
pathogenic
GRCh38/hg38 12q24.21-24.33(chr12:114268403-133201316)x3 copy number gain See cases [RCV000143656] Chr12:114268403..133201316 [GRCh38]
Chr12:114706208..133777902 [GRCh37]
Chr12:113190591..132287975 [NCBI36]
Chr12:12q24.21-24.33
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 copy number gain See cases [RCV000258805] Chr12:1..133851895 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic|likely pathogenic
NM_000545.6(HNF1A):c.811C>T (p.Arg271Trp) single nucleotide variant not provided [RCV000255469] Chr12:120994261 [GRCh38]
Chr12:121432064 [GRCh37]
Chr12:12q24.31
pathogenic
NM_000545.6(HNF1A):c.779C>T (p.Thr260Met) single nucleotide variant Maturity onset diabetes mellitus in young [RCV001248918]|not provided [RCV000255526] Chr12:120994229 [GRCh38]
Chr12:121432032 [GRCh37]
Chr12:12q24.31
pathogenic|likely pathogenic
NM_000545.6(HNF1A):c.-23-444C>T single nucleotide variant not provided [RCV000518964] Chr12:120978302 [GRCh38]
Chr12:121416105 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000545.6(HNF1A):c.494G>A (p.Trp165Ter) single nucleotide variant not provided [RCV000516743] Chr12:120989000 [GRCh38]
Chr12:121426803 [GRCh37]
Chr12:12q24.31
likely pathogenic
NM_000545.6(HNF1A):c.1377G>A (p.Leu459=) single nucleotide variant Maturity-onset diabetes of the young, type 3 [RCV000263322]|not provided [RCV000867352]|not specified [RCV000246227] Chr12:120997541 [GRCh38]
Chr12:121435344 [GRCh37]
Chr12:12q24.31
benign|likely benign|conflicting interpretations of pathogenicity
NM_000545.6(HNF1A):c.1548C>T (p.Gly516=) single nucleotide variant not specified [RCV000246843] Chr12:120999314 [GRCh38]
Chr12:121437117 [GRCh37]
Chr12:12q24.31
likely benign
NM_000545.6(HNF1A):c.1768G>A (p.Val590Met) single nucleotide variant not specified [RCV000517281] Chr12:120999627 [GRCh38]
Chr12:121437430 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000545.6(HNF1A):c.1623+3A>G single nucleotide variant not specified [RCV000252002] Chr12:120999392 [GRCh38]
Chr12:121437195 [GRCh37]
Chr12:12q24.31
likely benign
NM_000545.6(HNF1A):c.900C>T (p.Pro300=) single nucleotide variant not specified [RCV000244789] Chr12:120994350 [GRCh38]
Chr12:121432153 [GRCh37]
Chr12:12q24.31
likely benign
NM_000545.6(HNF1A):c.1502-14T>C single nucleotide variant not specified [RCV000249865] Chr12:120999254 [GRCh38]
Chr12:121437057 [GRCh37]
Chr12:12q24.31
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000545.6(HNF1A):c.1425G>A (p.Pro475=) single nucleotide variant not provided [RCV000862784]|not specified [RCV000249955] Chr12:120997589 [GRCh38]
Chr12:121435392 [GRCh37]
Chr12:12q24.31
benign|likely benign|conflicting interpretations of pathogenicity
NM_000545.6(HNF1A):c.326+6_326+10dup duplication not specified [RCV000252495] Chr12:120979099..120979100 [GRCh38]
Chr12:121416902..121416903 [GRCh37]
Chr12:12q24.31
benign
NM_000545.6(HNF1A):c.767C>T (p.Ser256Phe) single nucleotide variant not specified [RCV000516404] Chr12:120994217 [GRCh38]
Chr12:121432020 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000545.6(HNF1A):c.434C>T (p.Ser145Phe) single nucleotide variant not specified [RCV000517597] Chr12:120988940 [GRCh38]
Chr12:121426743 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000545.6(HNF1A):c.749A>C (p.Gln250Pro) single nucleotide variant not specified [RCV000518130] Chr12:120994199 [GRCh38]
Chr12:121432002 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000545.6(HNF1A):c.1015G>A (p.Gly339Ser) single nucleotide variant Maturity-onset diabetes of the young, type 3 [RCV000369590]|not provided [RCV000866953] Chr12:120996321 [GRCh38]
Chr12:121434124 [GRCh37]
Chr12:12q24.31
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022895.3(C12orf43):c.*2747C>T single nucleotide variant Maturity-onset diabetes of the young, type 3 [RCV000398848] Chr12:121001406 [GRCh38]
Chr12:121439209 [GRCh37]
Chr12:12q24.31
benign|likely benign
NM_000545.6(HNF1A):c.264G>A (p.Glu88=) single nucleotide variant Maturity onset diabetes mellitus in young [RCV000305292]|not provided [RCV000861723] Chr12:120979032 [GRCh38]
Chr12:121416835 [GRCh37]
Chr12:12q24.31
benign|likely benign
NM_022895.3(C12orf43):c.*2570C>G single nucleotide variant Maturity-onset diabetes of the young, type 3 [RCV000349638] Chr12:121001583 [GRCh38]
Chr12:121439386 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_022895.3(C12orf43):c.*2791G>A single nucleotide variant Maturity-onset diabetes of the young, type 3 [RCV000289022] Chr12:121001362 [GRCh38]
Chr12:121439165 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_022895.3(C12orf43):c.*2358C>T single nucleotide variant Maturity-onset diabetes of the young, type 3 [RCV000353132] Chr12:121001795 [GRCh38]
Chr12:121439598 [GRCh37]
Chr12:12q24.31
benign|likely benign
NM_022895.3(C12orf43):c.*1649G>A single nucleotide variant Maturity-onset diabetes of the young, type 3 [RCV000379314] Chr12:121002504 [GRCh38]
Chr12:121440307 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_022895.3(C12orf43):c.*2523C>T single nucleotide variant Maturity-onset diabetes of the young, type 3 [RCV000402135] Chr12:121001630 [GRCh38]
Chr12:121439433 [GRCh37]
Chr12:12q24.31
benign
NM_000545.6(HNF1A):c.693G>A (p.Thr231=) single nucleotide variant Maturity-onset diabetes of the young, type 3 [RCV000273774] Chr12:120993686 [GRCh38]
Chr12:121431489 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_022895.3(C12orf43):c.*2053C>T single nucleotide variant Maturity-onset diabetes of the young, type 3 [RCV000260540] Chr12:121002100 [GRCh38]
Chr12:121439903 [GRCh37]
Chr12:12q24.31
likely benign
NM_022895.3(C12orf43):c.*1891G>A single nucleotide variant Maturity-onset diabetes of the young, type 3 [RCV000357347] Chr12:121002262 [GRCh38]
Chr12:121440065 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_022895.3(C12orf43):c.*2514A>T single nucleotide variant Maturity-onset diabetes of the young, type 3 [RCV000314674] Chr12:121001639 [GRCh38]
Chr12:121439442 [GRCh37]
Chr12:12q24.31
benign|likely benign
NM_000545.6(HNF1A):c.-6C>T single nucleotide variant Maturity-onset diabetes of the young, type 3 [RCV000336813] Chr12:120978763 [GRCh38]
Chr12:121416566 [GRCh37]
Chr12:12q24.31
likely benign|uncertain significance
NM_022895.3(C12orf43):c.*2022C>T single nucleotide variant Maturity-onset diabetes of the young, type 3 [RCV000299380] Chr12:121002131 [GRCh38]
Chr12:121439934 [GRCh37]
Chr12:12q24.31
benign|uncertain significance
NM_000545.6(HNF1A):c.42G>A (p.Ala14=) single nucleotide variant Maturity-onset diabetes of the young, type 3 [RCV000282958] Chr12:120978810 [GRCh38]
Chr12:121416613 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000545.6(HNF1A):c.336G>A (p.Pro112=) single nucleotide variant Maturity-onset diabetes of the young, type 3 [RCV000366002]|not provided [RCV000861915]|not specified [RCV000504238] Chr12:120988842 [GRCh38]
Chr12:121426645 [GRCh37]
Chr12:12q24.31
benign|likely benign|uncertain significance
NM_022895.3(C12orf43):c.*1693C>T single nucleotide variant Maturity-onset diabetes of the young, type 3 [RCV000322383] Chr12:121002460 [GRCh38]
Chr12:121440263 [GRCh37]
Chr12:12q24.31
benign
NM_022895.3(C12orf43):c.*2764C>A single nucleotide variant Maturity-onset diabetes of the young, type 3 [RCV000346267] Chr12:121001389 [GRCh38]
Chr12:121439192 [GRCh37]
Chr12:12q24.31
benign
NM_000545.6(HNF1A):c.30G>A (p.Thr10=) single nucleotide variant Maturity-onset diabetes of the young, type 3 [RCV000395318] Chr12:120978798 [GRCh38]
Chr12:121416601 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000545.6(HNF1A):c.-167_-161TGGGGGT[3] microsatellite not provided [RCV000286626] Chr12:120978597..120978598 [GRCh38]
Chr12:121416400..121416401 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_022895.3(C12orf43):c.*2694A>G single nucleotide variant Maturity-onset diabetes of the young, type 3 [RCV000311087] Chr12:121001459 [GRCh38]
Chr12:121439262 [GRCh37]
Chr12:12q24.31
likely benign|uncertain significance
NM_022895.3(C12orf43):c.*1890C>A single nucleotide variant Maturity-onset diabetes of the young, type 3 [RCV000264847] Chr12:121002263 [GRCh38]
Chr12:121440066 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000545.6(HNF1A):c.1504C>G (p.Leu502Val) single nucleotide variant not provided [RCV000523345] Chr12:120999270 [GRCh38]
Chr12:121437073 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000545.6(HNF1A):c.1768+11C>T single nucleotide variant Maturity-onset diabetes of the young, type 3 [RCV000381111] Chr12:120999638 [GRCh38]
Chr12:121437441 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000545.6(HNF1A):c.871C>T (p.Pro291Ser) single nucleotide variant Maturity-onset diabetes of the young, type 3 [RCV001115117]|not provided [RCV000863499]|not specified [RCV000516527] Chr12:120994321 [GRCh38]
Chr12:121432124 [GRCh37]
Chr12:12q24.31
benign|likely benign
NM_000545.6(HNF1A):c.801_802insGGG (p.Phe268_Ala269insGly) insertion not specified [RCV000517425] Chr12:120994249..120994250 [GRCh38]
Chr12:121432052..121432053 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000545.6(HNF1A):c.185A>G (p.Asn62Ser) single nucleotide variant not specified [RCV000517873] Chr12:120978953 [GRCh38]
Chr12:121416756 [GRCh37]
Chr12:12q24.31
uncertain significance
GRCh37/hg19 12q24.31(chr12:121017665-121496723)x3 copy number gain not provided [RCV000585446] Chr12:121017665..121496723 [GRCh37]
Chr12:12q24.31
likely benign
NM_000545.6(HNF1A):c.327-14T>C single nucleotide variant Maturity-onset diabetes of the young, type 3 [RCV000308932] Chr12:120988819 [GRCh38]
Chr12:121426622 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_022895.3(C12orf43):c.*3028_*3035del deletion Maturity-onset diabetes of the young, type 3 [RCV000625678] Chr12:121001118..121001125 [GRCh38]
Chr12:121438921..121438928 [GRCh37]
Chr12:12q24.31
likely pathogenic
NM_000545.6(HNF1A):c.526+2dup duplication not specified [RCV000518513] Chr12:120989033..120989034 [GRCh38]
Chr12:121426836..121426837 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000545.6(HNF1A):c.1386C>T (p.Val462=) single nucleotide variant not provided [RCV000864186]|not specified [RCV000518646] Chr12:120997550 [GRCh38]
Chr12:121435353 [GRCh37]
Chr12:12q24.31
likely benign
NM_000545.6(HNF1A):c.527-1G>A single nucleotide variant not provided [RCV000521422] Chr12:120993519 [GRCh38]
Chr12:121431322 [GRCh37]
Chr12:12q24.31
pathogenic
NM_000545.6(HNF1A):c.817A>C (p.Lys273Gln) single nucleotide variant not specified [RCV000517855] Chr12:120994267 [GRCh38]
Chr12:121432070 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000545.6(HNF1A):c.794A>C (p.Tyr265Ser) single nucleotide variant not specified [RCV000518227] Chr12:120994244 [GRCh38]
Chr12:121432047 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000545.6(HNF1A):c.805G>A (p.Ala269Thr) single nucleotide variant not provided [RCV000597725] Chr12:120994255 [GRCh38]
Chr12:121432058 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000545.6(HNF1A):c.445A>G (p.Asn149Asp) single nucleotide variant not provided [RCV000729628] Chr12:120988951 [GRCh38]
Chr12:121426754 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000545.6(HNF1A):c.1405C>T (p.His469Tyr) single nucleotide variant Maturity-onset diabetes of the young, type 3 [RCV001111782]|not provided [RCV000734466] Chr12:120997569 [GRCh38]
Chr12:121435372 [GRCh37]
Chr12:12q24.31
likely benign|uncertain significance
NM_000545.6(HNF1A):c.526C>T (p.Gln176Ter) single nucleotide variant Maturity-onset diabetes of the young, type 3 [RCV001249012]|not provided [RCV000414498] Chr12:120989032 [GRCh38]
Chr12:121426835 [GRCh37]
Chr12:12q24.31
pathogenic
NM_022895.3(C12orf43):c.*2956C>T single nucleotide variant not specified [RCV000417949] Chr12:121001197 [GRCh38]
Chr12:121439000 [GRCh37]
Chr12:12q24.31
benign|likely benign
NM_000545.6(HNF1A):c.694dup (p.Leu232fs) duplication Monogenic diabetes [RCV000445449] Chr12:120993686..120993687 [GRCh38]
Chr12:121431489..121431490 [GRCh37]
Chr12:12q24.31
pathogenic
NM_000545.6(HNF1A):c.616T>A (p.Trp206Arg) single nucleotide variant Monogenic diabetes [RCV000445512] Chr12:120993609 [GRCh38]
Chr12:121431412 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000545.6(HNF1A):c.1722C>A (p.Gly574=) single nucleotide variant Monogenic diabetes [RCV000445514]|not provided [RCV000713789] Chr12:120999581 [GRCh38]
Chr12:121437384 [GRCh37]
Chr12:12q24.31
benign|likely benign
NM_000545.6(HNF1A):c.599G>A (p.Arg200Gln) single nucleotide variant Diabetes mellitus [RCV001175316]|not provided [RCV000424339] Chr12:120993592 [GRCh38]
Chr12:121431395 [GRCh37]
Chr12:12q24.31
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000545.6(HNF1A):c.-23-504C>T single nucleotide variant not specified [RCV000425358] Chr12:120978242 [GRCh38]
Chr12:121416045 [GRCh37]
Chr12:12q24.31
likely benign
NM_000545.6(HNF1A):c.870C>T (p.Pro290=) single nucleotide variant not specified [RCV000432411] Chr12:120994320 [GRCh38]
Chr12:121432123 [GRCh37]
Chr12:12q24.31
likely benign
NM_000545.6(HNF1A):c.788G>A (p.Arg263His) single nucleotide variant not provided [RCV000425720] Chr12:120994238 [GRCh38]
Chr12:121432041 [GRCh37]
Chr12:12q24.31
pathogenic
NM_000545.6(HNF1A):c.-23-324G>A single nucleotide variant not specified [RCV000419807] Chr12:120978422 [GRCh38]
Chr12:121416225 [GRCh37]
Chr12:12q24.31
likely benign
NM_000545.6(HNF1A):c.686G>A (p.Arg229Gln) single nucleotide variant not provided [RCV000432234] Chr12:120993679 [GRCh38]
Chr12:121431482 [GRCh37]
Chr12:12q24.31
pathogenic
NM_000545.6(HNF1A):c.511C>T (p.Arg171Ter) single nucleotide variant not provided [RCV000436030] Chr12:120989017 [GRCh38]
Chr12:121426820 [GRCh37]
Chr12:12q24.31
pathogenic
NM_000545.6(HNF1A):c.685C>T (p.Arg229Ter) single nucleotide variant not provided [RCV000483162] Chr12:120993678 [GRCh38]
Chr12:121431481 [GRCh37]
Chr12:12q24.31
pathogenic
NM_000545.6(HNF1A):c.55T>G (p.Ser19Ala) single nucleotide variant not provided [RCV000484372] Chr12:120978823 [GRCh38]
Chr12:121416626 [GRCh37]
Chr12:12q24.31
likely pathogenic
NM_000545.8(HNF1A):c.923C>T (p.Pro308Leu) single nucleotide variant not specified [RCV000455518] Chr12:120994373 [GRCh38]
Chr12:121432176 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000545.8(HNF1A):c.539C>T (p.Ala180Val) single nucleotide variant not specified [RCV000455694] Chr12:120993532 [GRCh38]
Chr12:121431335 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000545.6(HNF1A):c.722_725dup (p.Ile242fs) duplication not provided [RCV000523074] Chr12:120994169..120994170 [GRCh38]
Chr12:121431972..121431973 [GRCh37]
Chr12:12q24.31
pathogenic
NM_000545.6(HNF1A):c.1541A>G (p.His514Arg) single nucleotide variant Maturity-onset diabetes of the young, type 3 [RCV000988925]|Monogenic diabetes [RCV000664141]|not provided [RCV000761846]|not specified [RCV000503260] Chr12:120999307 [GRCh38]
Chr12:121437110 [GRCh37]
Chr12:12q24.31
pathogenic|uncertain significance
NM_000545.6(HNF1A):c.1383C>T (p.Pro461=) single nucleotide variant not specified [RCV000501197] Chr12:120997547 [GRCh38]
Chr12:121435350 [GRCh37]
Chr12:12q24.31
likely benign
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 copy number gain See cases [RCV000510482] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
NM_000545.6(HNF1A):c.586A>G (p.Thr196Ala) single nucleotide variant Maturity-onset diabetes of the young, type 3 [RCV001115116]|not specified [RCV000501483] Chr12:120993579 [GRCh38]
Chr12:121431382 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000545.6(HNF1A):c.1501+6C>T single nucleotide variant Diabetes mellitus type 1 [RCV000763798]|not provided [RCV000983927]|not specified [RCV000504118] Chr12:120997671 [GRCh38]
Chr12:121435474 [GRCh37]
Chr12:12q24.31
likely benign|uncertain significance
NM_000545.6(HNF1A):c.521C>T (p.Ala174Val) single nucleotide variant not specified [RCV000501906] Chr12:120989027 [GRCh38]
Chr12:121426830 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000545.6(HNF1A):c.977C>T (p.Ala326Val) single nucleotide variant Maturity-onset diabetes of the young, type 3 [RCV001109484]|not specified [RCV000499904] Chr12:120996283 [GRCh38]
Chr12:121434086 [GRCh37]
Chr12:12q24.31
likely benign|uncertain significance
NM_000545.6(HNF1A):c.306C>T (p.Ala102=) single nucleotide variant not provided [RCV000993270]|not specified [RCV000502226] Chr12:120979074 [GRCh38]
Chr12:121416877 [GRCh37]
Chr12:12q24.31
likely benign
NM_000545.6(HNF1A):c.1135C>G (p.Pro379Ala) single nucleotide variant Diabetes mellitus type 1 [RCV000762890]|Maturity-onset diabetes of the young, type 3 [RCV001109486]|not provided [RCV000497653] Chr12:120996568 [GRCh38]
Chr12:121434371 [GRCh37]
Chr12:12q24.31
pathogenic|likely pathogenic|uncertain significance
NM_000545.6(HNF1A):c.676_678del (p.Lys226del) deletion Maturity-onset diabetes of the young, type 3 [RCV000500461] Chr12:120993669..120993671 [GRCh38]
Chr12:121431472..121431474 [GRCh37]
Chr12:12q24.31
likely pathogenic
NM_000545.6(HNF1A):c.29C>T (p.Thr10Met) single nucleotide variant Maturity-onset diabetes of the young, type 3 [RCV000500944]|Monogenic diabetes [RCV001248912] Chr12:120978797 [GRCh38]
Chr12:121416600 [GRCh37]
Chr12:12q24.31
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000545.6(HNF1A):c.1137del (p.Val380fs) deletion Maturity onset diabetes mellitus in young [RCV000677301]|Maturity-onset diabetes of the young, type 3 [RCV000501374]|not provided [RCV000518541] Chr12:120996570 [GRCh38]
Chr12:121434373 [GRCh37]
Chr12:12q24.31
pathogenic
NM_000545.6(HNF1A):c.864del (p.Pro291fs) deletion Maturity-onset diabetes of the young, type 3 [RCV000502914]|not provided [RCV000723679] Chr12:120994312 [GRCh38]
Chr12:121432115 [GRCh37]
Chr12:12q24.31
pathogenic
NM_000545.6(HNF1A):c.1359del (p.Ser454fs) deletion Maturity-onset diabetes of the young, type 3 [RCV000503455] Chr12:120997523 [GRCh38]
Chr12:121435326 [GRCh37]
Chr12:12q24.31
pathogenic
NM_022895.3(C12orf43):c.*3039dup duplication Maturity-onset diabetes of the young, type 3 [RCV000505657] Chr12:121001113..121001114 [GRCh38]
Chr12:121438916..121438917 [GRCh37]
Chr12:12q24.31
pathogenic
NM_000545.6(HNF1A):c.475C>T (p.Arg159Trp) single nucleotide variant Diabetes mellitus [RCV001175312]|not provided [RCV000494442] Chr12:120988981 [GRCh38]
Chr12:121426784 [GRCh37]
Chr12:12q24.31
pathogenic|likely pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) copy number gain See cases [RCV000511643] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
NM_000545.6(HNF1A):c.1594G>A (p.Ala532Thr) single nucleotide variant Maturity-onset diabetes of the young, type 3 [RCV001112244]|not provided [RCV000713787] Chr12:120999360 [GRCh38]
Chr12:121437163 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_022895.3(C12orf43):c.*3057G>A single nucleotide variant Maturity-onset diabetes of the young, type 3 [RCV001113595]|not specified [RCV001264602] Chr12:121001096 [GRCh38]
Chr12:121438899 [GRCh37]
Chr12:12q24.31
benign|likely benign
NM_000545.6(HNF1A):c.1501+1G>A single nucleotide variant Maturity-onset diabetes of the young, type 3 [RCV000495949] Chr12:120997666 [GRCh38]
Chr12:121435469 [GRCh37]
Chr12:12q24.31
likely pathogenic
NM_000545.6(HNF1A):c.-5G>A single nucleotide variant not specified [RCV000518027] Chr12:120978764 [GRCh38]
Chr12:121416567 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000545.6(HNF1A):c.283G>A (p.Glu95Lys) single nucleotide variant not provided [RCV000594194] Chr12:120979051 [GRCh38]
Chr12:121416854 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000545.6(HNF1A):c.1623+16G>A single nucleotide variant not specified [RCV000612442] Chr12:120999405 [GRCh38]
Chr12:121437208 [GRCh37]
Chr12:12q24.31
likely benign
NM_000545.6(HNF1A):c.1623+20G>A single nucleotide variant not specified [RCV000604504] Chr12:120999409 [GRCh38]
Chr12:121437212 [GRCh37]
Chr12:12q24.31
likely benign
NM_000545.6(HNF1A):c.1489C>T (p.Gln497Ter) single nucleotide variant not provided [RCV000579156] Chr12:120997653 [GRCh38]
Chr12:121435456 [GRCh37]
Chr12:12q24.31
pathogenic
NM_000545.6(HNF1A):c.-4A>G single nucleotide variant Maturity-onset diabetes of the young, type 3 [RCV001111696]|not specified [RCV000517679] Chr12:120978765 [GRCh38]
Chr12:121416568 [GRCh37]
Chr12:12q24.31
benign|uncertain significance
NM_000545.6(HNF1A):c.1A>T (p.Met1Leu) single nucleotide variant not provided [RCV000595936] Chr12:120978769 [GRCh38]
Chr12:121416572 [GRCh37]
Chr12:12q24.31
pathogenic
NM_000545.6(HNF1A):c.1500C>T (p.His500=) single nucleotide variant not provided [RCV000713786] Chr12:120997664 [GRCh38]
Chr12:121435467 [GRCh37]
Chr12:12q24.31
benign
NM_000545.6(HNF1A):c.1483C>T (p.Gln495Ter) single nucleotide variant not provided [RCV000713785] Chr12:120997647 [GRCh38]
Chr12:121435450 [GRCh37]
Chr12:12q24.31
pathogenic
NM_000545.6(HNF1A):c.370C>T (p.Gln124Ter) single nucleotide variant not provided [RCV000713792] Chr12:120988876 [GRCh38]
Chr12:121426679 [GRCh37]
Chr12:12q24.31
pathogenic
NM_000545.6(HNF1A):c.944G>A (p.Ser315Asn) single nucleotide variant not provided [RCV000713798] Chr12:120994394 [GRCh38]
Chr12:121432197 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000545.6(HNF1A):c.59G>T (p.Gly20Val) single nucleotide variant not provided [RCV000681881] Chr12:120978827 [GRCh38]
Chr12:121416630 [GRCh37]
Chr12:12q24.31
likely pathogenic
NM_000545.6(HNF1A):c.1576G>A (p.Asp526Asn) single nucleotide variant Maturity-onset diabetes of the young, type 3 [RCV001248947]|not provided [RCV000681952] Chr12:120999342 [GRCh38]
Chr12:121437145 [GRCh37]
Chr12:12q24.31
likely pathogenic|uncertain significance
GRCh37/hg19 12q24.31(chr12:121070791-121422367)x3 copy number gain not provided [RCV000683423] Chr12:121070791..121422367 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000545.6(HNF1A):c.787C>T (p.Arg263Cys) single nucleotide variant not provided [RCV000681826] Chr12:120994237 [GRCh38]
Chr12:121432040 [GRCh37]
Chr12:12q24.31
pathogenic
NM_000545.6(HNF1A):c.19C>T (p.Gln7Ter) single nucleotide variant not provided [RCV000681831] Chr12:120978787 [GRCh38]
Chr12:121416590 [GRCh37]
Chr12:12q24.31
pathogenic
NM_000545.6(HNF1A):c.392G>A (p.Arg131Gln) single nucleotide variant Maturity-onset diabetes of the young, type 3 [RCV001248948]|not provided [RCV000681832] Chr12:120988898 [GRCh38]
Chr12:121426701 [GRCh37]
Chr12:12q24.31
pathogenic
NM_000545.6(HNF1A):c.1704C>T (p.Pro568=) single nucleotide variant not provided [RCV000713788] Chr12:120999563 [GRCh38]
Chr12:121437366 [GRCh37]
Chr12:12q24.31
benign
NM_000545.6(HNF1A):c.476G>A (p.Arg159Gln) single nucleotide variant Maturity-onset diabetes of the young, type 3 [RCV000722049]|not provided [RCV000713793] Chr12:120988982 [GRCh38]
Chr12:121426785 [GRCh37]
Chr12:12q24.31
pathogenic
NM_000545.6(HNF1A):c.818_820AAG[2] (p.Glu275del) microsatellite not provided [RCV000713796] Chr12:120994268..120994270 [GRCh38]
Chr12:121432071..121432073 [GRCh37]
Chr12:12q24.31
likely pathogenic
NM_000545.6(HNF1A):c.586del (p.Thr196fs) deletion not provided [RCV000713794] Chr12:120993578 [GRCh38]
Chr12:121431381 [GRCh37]
Chr12:12q24.31
likely pathogenic
NM_000545.6(HNF1A):c.864_897del (p.Pro290fs) deletion Maturity-onset diabetes of the young, type 3 [RCV000709725] Chr12:120994313..120994346 [GRCh38]
Chr12:121432116..121432149 [GRCh37]
Chr12:12q24.31
pathogenic
NM_000545.6(HNF1A):c.901G>A (p.Ala301Thr) single nucleotide variant not provided [RCV000713797] Chr12:120994351 [GRCh38]
Chr12:121432154 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000545.6(HNF1A):c.626C>A (p.Ala209Glu) single nucleotide variant not provided [RCV000713795]|not specified [RCV001290678] Chr12:120993619 [GRCh38]
Chr12:121431422 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000545.6(HNF1A):c.956-1G>A single nucleotide variant not provided [RCV000713799] Chr12:120996261 [GRCh38]
Chr12:121434064 [GRCh37]
Chr12:12q24.31
likely pathogenic
GRCh37/hg19 12q24.23-24.33(chr12:120367241-133777645)x3 copy number gain not provided [RCV000738070] Chr12:120367241..133777645 [GRCh37]
Chr12:12q24.23-24.33
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 copy number gain not provided [RCV000750246] Chr12:191619..133777645 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 copy number gain not provided [RCV000750253] Chr12:621220..133779118 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
NM_000545.8(HNF1A):c.246G>A (p.Thr82=) single nucleotide variant not provided [RCV000872089] Chr12:120979014 [GRCh38]
Chr12:121416817 [GRCh37]
Chr12:12q24.31
likely benign
NM_000545.8(HNF1A):c.1330_1331del (p.Gln444fs) microsatellite Maturity-onset diabetes of the young, type 3 [RCV000754812] Chr12:120997492..120997493 [GRCh38]
Chr12:121435295..121435296 [GRCh37]
Chr12:12q24.31
pathogenic
NM_000545.6(HNF1A):c.956-1G>C single nucleotide variant Maturity-onset diabetes of the young, type 3 [RCV000754807] Chr12:120996261 [GRCh38]
Chr12:121434064 [GRCh37]
Chr12:12q24.31
pathogenic
NM_000545.8(HNF1A):c.1531C>T (p.Gln511Ter) single nucleotide variant not provided [RCV000993266] Chr12:120999297 [GRCh38]
Chr12:121437100 [GRCh37]
Chr12:12q24.31
likely pathogenic
NM_000545.8(HNF1A):c.1464C>G (p.Pro488=) single nucleotide variant not provided [RCV000902755] Chr12:120997628 [GRCh38]
Chr12:121435431 [GRCh37]
Chr12:12q24.31
likely benign
NM_000545.8(HNF1A):c.685C>A (p.Arg229=) single nucleotide variant not provided [RCV000866444] Chr12:120993678 [GRCh38]
Chr12:121431481 [GRCh37]
Chr12:12q24.31
likely benign
NM_000545.8(HNF1A):c.1501+7G>C single nucleotide variant not provided [RCV000924279] Chr12:120997672 [GRCh38]
Chr12:121435475 [GRCh37]
Chr12:12q24.31
likely benign
NM_000545.8(HNF1A):c.526+1G>A single nucleotide variant not provided [RCV001049923] Chr12:120989033 [GRCh38]
Chr12:121426836 [GRCh37]
Chr12:12q24.31
likely pathogenic
NM_000545.8(HNF1A):c.156C>T (p.Gly52=) single nucleotide variant not provided [RCV000862745] Chr12:120978924 [GRCh38]
Chr12:121416727 [GRCh37]
Chr12:12q24.31
benign
NM_000545.8(HNF1A):c.1281C>T (p.Thr427=) single nucleotide variant not provided [RCV000981318] Chr12:120996714 [GRCh38]
Chr12:121434517 [GRCh37]
Chr12:12q24.31
likely benign
NM_000545.6(HNF1A):c.327-42G>A single nucleotide variant not provided [RCV000832814] Chr12:120988791 [GRCh38]
Chr12:121426594 [GRCh37]
Chr12:12q24.31
benign
NM_000545.6(HNF1A):c.1501+68A>G single nucleotide variant not provided [RCV000836391] Chr12:120997733 [GRCh38]
Chr12:121435536 [GRCh37]
Chr12:12q24.31
likely benign
NM_000545.8(HNF1A):c.1136_1137del (p.Pro379fs) deletion not provided [RCV000993261] Chr12:120996569..120996570 [GRCh38]
Chr12:121434372..121434373 [GRCh37]
Chr12:12q24.31
pathogenic
NM_000545.8(HNF1A):c.327-3_327-1del deletion not provided [RCV000993271] Chr12:120988830..120988832 [GRCh38]
Chr12:121426633..121426635 [GRCh37]
Chr12:12q24.31
pathogenic
NM_000545.8(HNF1A):c.1573A>T (p.Thr525Ser) single nucleotide variant Maturity-onset diabetes of the young, type 1 [RCV001248995]|not specified [RCV000825937] Chr12:120999339 [GRCh38]
Chr12:121437142 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000545.6(HNF1A):c.1309+288G>A single nucleotide variant not provided [RCV000840407] Chr12:120997030 [GRCh38]
Chr12:121434833 [GRCh37]
Chr12:12q24.31
benign
NM_000545.8(HNF1A):c.1136del (p.Pro379fs) deletion Maturity-onset diabetes of the young, type 3 [RCV000988922] Chr12:120996564 [GRCh38]
Chr12:121434367 [GRCh37]
Chr12:12q24.31
pathogenic
NM_000545.6(HNF1A):c.527-51T>A single nucleotide variant not provided [RCV000833673] Chr12:120993469 [GRCh38]
Chr12:121431272 [GRCh37]
Chr12:12q24.31
benign
NM_000545.6(HNF1A):c.326+91A>G single nucleotide variant not provided [RCV000836327] Chr12:120979185 [GRCh38]
Chr12:121416988 [GRCh37]
Chr12:12q24.31
benign
NM_000545.6(HNF1A):c.955+94T>G single nucleotide variant not provided [RCV000836328] Chr12:120994499 [GRCh38]
Chr12:121432302 [GRCh37]
Chr12:12q24.31
benign
NC_000012.12:g.120996827_120996828insTCATTCAT insertion not provided [RCV000836330]   benign
NM_000545.6(HNF1A):c.326+241T>C single nucleotide variant not provided [RCV000836331] Chr12:120979335 [GRCh38]
Chr12:121417138 [GRCh37]
Chr12:12q24.31
likely benign
NM_000545.6(HNF1A):c.327-158C>T single nucleotide variant not provided [RCV000836332] Chr12:120988675 [GRCh38]
Chr12:121426478 [GRCh37]
Chr12:12q24.31
benign
NM_000545.6(HNF1A):c.527-98G>A single nucleotide variant not provided [RCV000836343] Chr12:120993422 [GRCh38]
Chr12:121431225 [GRCh37]
Chr12:12q24.31
benign
NM_000545.6(HNF1A):c.1501+119G>T single nucleotide variant not provided [RCV000836346] Chr12:120997784 [GRCh38]
Chr12:121435587 [GRCh37]
Chr12:12q24.31
benign
NM_000545.8(HNF1A):c.99G>A (p.Pro33=) single nucleotide variant Maturity-onset diabetes of the young, type 3 [RCV001112157]|not provided [RCV000861547] Chr12:120978867 [GRCh38]
Chr12:121416670 [GRCh37]
Chr12:12q24.31
likely benign|uncertain significance
NM_000545.8(HNF1A):c.1446C>T (p.Ser482=) single nucleotide variant not provided [RCV000861834] Chr12:120997610 [GRCh38]
Chr12:121435413 [GRCh37]
Chr12:12q24.31
benign
NC_000012.12:g.120978369C>T single nucleotide variant not provided [RCV000835293] Chr12:120978369 [GRCh38]
Chr12:121416172 [GRCh37]
Chr12:12q24.31
likely benign
NM_000545.6(HNF1A):c.519G>A (p.Val173=) single nucleotide variant not provided [RCV000827173] Chr12:120989025 [GRCh38]
Chr12:121426828 [GRCh37]
Chr12:12q24.31
likely benign
NM_000545.6(HNF1A):c.527-23C>T single nucleotide variant not provided [RCV000832815] Chr12:120993497 [GRCh38]
Chr12:121431300 [GRCh37]
Chr12:12q24.31
benign
NM_022895.3(C12orf43):c.*3112A>G single nucleotide variant not provided [RCV000832816] Chr12:121001041 [GRCh38]
Chr12:121438844 [GRCh37]
Chr12:12q24.31
benign
NM_000545.8(HNF1A):c.160C>T (p.Arg54Ter) single nucleotide variant not provided [RCV000993267] Chr12:120978928 [GRCh38]
Chr12:121416731 [GRCh37]
Chr12:12q24.31
pathogenic
NM_000545.8(HNF1A):c.704A>G (p.Glu235Gly) single nucleotide variant not provided [RCV000993272] Chr12:120993697 [GRCh38]
Chr12:121431500 [GRCh37]
Chr12:12q24.31
likely pathogenic
NM_000545.8(HNF1A):c.499G>A (p.Val167Ile) single nucleotide variant Maturity-onset diabetes of the young, type 3 [RCV001115115] Chr12:120989005 [GRCh38]
Chr12:121426808 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000545.8(HNF1A):c.1140dup (p.Ser381fs) duplication not provided [RCV000993262] Chr12:120996572..120996573 [GRCh38]
Chr12:121434375..121434376 [GRCh37]
Chr12:12q24.31
pathogenic
NM_000545.8(HNF1A):c.1322C>A (p.Thr441Lys) single nucleotide variant not provided [RCV000993263] Chr12:120997486 [GRCh38]
Chr12:121435289 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000545.8(HNF1A):c.1516_1624-30del deletion not provided [RCV000993265] Chr12:120999281..120999452 [GRCh38]
Chr12:121437084..121437255 [GRCh37]
Chr12:12q24.31
pathogenic
NM_000545.8(HNF1A):c.864delinsCC (p.Gly292fs) indel not provided [RCV001008770] Chr12:120994314 [GRCh38]
Chr12:121432117 [GRCh37]
Chr12:12q24.31
pathogenic
NM_000545.8(HNF1A):c.216C>T (p.Asp72=) single nucleotide variant Maturity-onset diabetes of the young, type 3 [RCV001112159] Chr12:120978984 [GRCh38]
Chr12:121416787 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000545.8(HNF1A):c.1695C>T (p.Leu565=) single nucleotide variant Maturity-onset diabetes of the young, type 3 [RCV001112246] Chr12:120999554 [GRCh38]
Chr12:121437357 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000545.8(HNF1A):c.142G>A (p.Glu48Lys) single nucleotide variant Monogenic diabetes [RCV001174362]|not provided [RCV000994997] Chr12:120978910 [GRCh38]
Chr12:121416713 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000545.8(HNF1A):c.60G>C (p.Gly20=) single nucleotide variant Maturity-onset diabetes of the young, type 3 [RCV001112156] Chr12:120978828 [GRCh38]
Chr12:121416631 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000545.8(HNF1A):c.639C>G (p.Ile213Met) single nucleotide variant Diabetes mellitus [RCV001175314] Chr12:120993632 [GRCh38]
Chr12:121431435 [GRCh37]
Chr12:12q24.31
likely pathogenic
NM_000545.8(HNF1A):c.85G>C (p.Ala29Pro) single nucleotide variant Monogenic diabetes [RCV001174360] Chr12:120978853 [GRCh38]
Chr12:121416656 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000545.8(HNF1A):c.1533G>A (p.Gln511=) single nucleotide variant Maturity-onset diabetes of the young, type 3 [RCV001111783] Chr12:120999299 [GRCh38]
Chr12:121437102 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000545.8(HNF1A):c.*39G>C single nucleotide variant Maturity-onset diabetes of the young, type 3 [RCV001113596] Chr12:121001231 [GRCh38]
Chr12:121439034 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000545.8(HNF1A):c.*196G>A single nucleotide variant Maturity-onset diabetes of the young, type 3 [RCV001113598] Chr12:121001388 [GRCh38]
Chr12:121439191 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000545.8(HNF1A):c.*864C>T single nucleotide variant Maturity-onset diabetes of the young, type 3 [RCV001111865] Chr12:121002056 [GRCh38]
Chr12:121439859 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000545.8(HNF1A):c.1583C>T (p.Thr528Ile) single nucleotide variant Maturity-onset diabetes of the young, type 3 [RCV001248946] Chr12:120999349 [GRCh38]
Chr12:121437152 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000545.8(HNF1A):c.932C>A (p.Ala311Asp) single nucleotide variant Maturity-onset diabetes of the young, type 3 [RCV001249070] Chr12:120994382 [GRCh38]
Chr12:121432185 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000545.8(HNF1A):c.1721G>A (p.Ser574Asn) single nucleotide variant not provided [RCV000993268] Chr12:120999580 [GRCh38]
Chr12:121437383 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000545.8(HNF1A):c.872del (p.Pro291fs) deletion not provided [RCV000993274] Chr12:120994315 [GRCh38]
Chr12:121432118 [GRCh37]
Chr12:12q24.31
pathogenic
NM_000545.8(HNF1A):c.50T>A (p.Leu17His) single nucleotide variant Maturity-onset diabetes of the young, type 3 [RCV001248886] Chr12:120978818 [GRCh38]
Chr12:121416621 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000545.8(HNF1A):c.1235T>C (p.Met412Thr) single nucleotide variant Maturity-onset diabetes of the young, type 3 [RCV001248993] Chr12:120996668 [GRCh38]
Chr12:121434471 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000545.8(HNF1A):c.871C>A (p.Pro291Thr) single nucleotide variant Maturity-onset diabetes of the young, type 3 [RCV001249071] Chr12:120994321 [GRCh38]
Chr12:121432124 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000545.8(HNF1A):c.962G>A (p.Arg321His) single nucleotide variant Maturity-onset diabetes of the young, type 3 [RCV001248940] Chr12:120996268 [GRCh38]
Chr12:121434071 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000545.8(HNF1A):c.1537A>T (p.Thr513Ser) single nucleotide variant Maturity-onset diabetes of the young, type 3 [RCV001248990] Chr12:120999303 [GRCh38]
Chr12:121437106 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000545.8(HNF1A):c.1494C>A (p.Ser498Arg) single nucleotide variant Maturity-onset diabetes of the young, type 3 [RCV001248992] Chr12:120997658 [GRCh38]
Chr12:121435461 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000545.8(HNF1A):c.1768+1G>A single nucleotide variant not provided [RCV001091861] Chr12:120999628 [GRCh38]
Chr12:121437431 [GRCh37]
Chr12:12q24.31
pathogenic
NM_000545.8(HNF1A):c.703G>C (p.Glu235Gln) single nucleotide variant Maturity-onset diabetes of the young, type 3 [RCV001248894] Chr12:120993696 [GRCh38]
Chr12:121431499 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000545.8(HNF1A):c.1108-4G>A single nucleotide variant not provided [RCV000861000] Chr12:120996537 [GRCh38]
Chr12:121434340 [GRCh37]
Chr12:12q24.31
likely benign
NM_000545.8(HNF1A):c.870C>A (p.Pro290=) single nucleotide variant not provided [RCV000867584] Chr12:120994320 [GRCh38]
Chr12:121432123 [GRCh37]
Chr12:12q24.31
likely benign
NM_000545.8(HNF1A):c.503G>A (p.Arg168His) single nucleotide variant Maturity-onset diabetes of the young, type 3 [RCV001248895] Chr12:120989009 [GRCh38]
Chr12:121426812 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000545.8(HNF1A):c.481G>A (p.Ala161Thr) single nucleotide variant Maturity-onset diabetes of the young, type 3 [RCV001248896] Chr12:120988987 [GRCh38]
Chr12:121426790 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000545.8(HNF1A):c.1849G>A (p.Val617Ile) single nucleotide variant Maturity-onset diabetes of the young, type 3 [RCV001248942] Chr12:121001145 [GRCh38]
Chr12:121438948 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000545.8(HNF1A):c.340C>T (p.Arg114Cys) single nucleotide variant Maturity-onset diabetes of the young, type 3 [RCV001248949] Chr12:120988846 [GRCh38]
Chr12:121426649 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000545.8(HNF1A):c.*1165C>T single nucleotide variant Maturity-onset diabetes of the young, type 3 [RCV001111868] Chr12:121002357 [GRCh38]
Chr12:121440160 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000545.8(HNF1A):c.*193C>A single nucleotide variant Maturity-onset diabetes of the young, type 3 [RCV001113597] Chr12:121001385 [GRCh38]
Chr12:121439188 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000545.8(HNF1A):c.43G>T (p.Ala15Ser) single nucleotide variant Type 2 diabetes mellitus [RCV001170062] Chr12:120978811 [GRCh38]
Chr12:121416614 [GRCh37]
Chr12:12q24.31
likely pathogenic
NM_000545.8(HNF1A):c.155G>C (p.Gly52Ala) single nucleotide variant not provided [RCV000913419] Chr12:120978923 [GRCh38]
Chr12:121416726 [GRCh37]
Chr12:12q24.31
likely benign
NM_000545.8(HNF1A):c.1747_1766del (p.Arg583fs) deletion not provided [RCV000993269] Chr12:120999601..120999620 [GRCh38]
Chr12:121437404..121437423 [GRCh37]
Chr12:12q24.31
pathogenic
NM_000545.8(HNF1A):c.*865G>A single nucleotide variant Maturity-onset diabetes of the young, type 3 [RCV000988926] Chr12:121002057 [GRCh38]
Chr12:121439860 [GRCh37]
Chr12:12q24.31
likely benign
NM_000545.8(HNF1A):c.*335C>T single nucleotide variant Maturity-onset diabetes of the young, type 3 [RCV001109584] Chr12:121001527 [GRCh38]
Chr12:121439330 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000545.8(HNF1A):c.*621C>T single nucleotide variant Maturity-onset diabetes of the young, type 3 [RCV001109586] Chr12:121001813 [GRCh38]
Chr12:121439616 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000545.8(HNF1A):c.*1044G>A single nucleotide variant Maturity-onset diabetes of the young, type 3 [RCV001111866] Chr12:121002236 [GRCh38]
Chr12:121440039 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000545.8(HNF1A):c.52G>T (p.Glu18Ter) single nucleotide variant Maturity onset diabetes mellitus in young [RCV001194005] Chr12:120978820 [GRCh38]
Chr12:121416623 [GRCh37]
Chr12:12q24.31
likely pathogenic
NM_000545.8(HNF1A):c.139G>C (p.Gly47Arg) single nucleotide variant Maturity-onset diabetes of the young, type 3 [RCV001112158] Chr12:120978907 [GRCh38]
Chr12:121416710 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000545.8(HNF1A):c.404A>C (p.Asp135Ala) single nucleotide variant Diabetes mellitus [RCV001175313] Chr12:120988910 [GRCh38]
Chr12:121426713 [GRCh37]
Chr12:12q24.31
likely pathogenic
NM_000545.8(HNF1A):c.824A>T (p.Glu275Val) single nucleotide variant Diabetes mellitus [RCV001175320] Chr12:120994274 [GRCh38]
Chr12:121432077 [GRCh37]
Chr12:12q24.31
pathogenic
NM_000545.8(HNF1A):c.1060A>G (p.Thr354Ala) single nucleotide variant Maturity-onset diabetes of the young, type 3 [RCV001109485] Chr12:120996366 [GRCh38]
Chr12:121434169 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000545.8(HNF1A):c.*589C>T single nucleotide variant Maturity-onset diabetes of the young, type 3 [RCV001109585] Chr12:121001781 [GRCh38]
Chr12:121439584 [GRCh37]
Chr12:12q24.31
likely benign
NM_000545.8(HNF1A):c.1139del (p.Val380fs) deletion Diabetes mellitus [RCV001172532] Chr12:120996572 [GRCh38]
Chr12:121434375 [GRCh37]
Chr12:12q24.31
pathogenic
NM_000545.8(HNF1A):c.56C>T (p.Ser19Leu) single nucleotide variant Diabetes mellitus [RCV001175328] Chr12:120978824 [GRCh38]
Chr12:121416627 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000545.8(HNF1A):c.*1090T>C single nucleotide variant Maturity-onset diabetes of the young, type 3 [RCV001111867] Chr12:121002282 [GRCh38]
Chr12:121440085 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000545.8(HNF1A):c.862G>T (p.Gly288Trp) single nucleotide variant Maturity-onset diabetes of the young, type 3 [RCV001248890] Chr12:120994312 [GRCh38]
Chr12:121432115 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000545.8(HNF1A):c.1498C>A (p.His500Asn) single nucleotide variant Maturity-onset diabetes of the young, type 3 [RCV001248945] Chr12:120997662 [GRCh38]
Chr12:121435465 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000545.8(HNF1A):c.1061C>T (p.Thr354Met) single nucleotide variant Maturity-onset diabetes of the young, type 3 [RCV001249068] Chr12:120996367 [GRCh38]
Chr12:121434170 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000545.8(HNF1A):c.1624-2A>G single nucleotide variant Maturity-onset diabetes of the young, type 3 [RCV001197559] Chr12:120999481 [GRCh38]
Chr12:121437284 [GRCh37]
Chr12:12q24.31
likely pathogenic
NM_000545.8(HNF1A):c.866C>G (p.Pro289Arg) single nucleotide variant Maturity-onset diabetes of the young, type 3 [RCV001248891] Chr12:120994316 [GRCh38]
Chr12:121432119 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000545.8(HNF1A):c.1855G>A (p.Glu619Lys) single nucleotide variant Maturity-onset diabetes of the young, type 3 [RCV001248941] Chr12:121001151 [GRCh38]
Chr12:121438954 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000545.8(HNF1A):c.1400C>T (p.Pro467Leu) single nucleotide variant Maturity-onset diabetes of the young, type 3 [RCV001248944] Chr12:120997564 [GRCh38]
Chr12:121435367 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000545.8(HNF1A):c.1501G>A (p.Ala501Thr) single nucleotide variant Maturity-onset diabetes of the young, type 3 [RCV001248991] Chr12:120997665 [GRCh38]
Chr12:121435468 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000545.8(HNF1A):c.1687A>G (p.Thr563Ala) single nucleotide variant Maturity-onset diabetes of the young, type 3 [RCV001112245] Chr12:120999546 [GRCh38]
Chr12:121437349 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000545.8(HNF1A):c.1310-1G>A single nucleotide variant Diabetes mellitus [RCV001172533] Chr12:120997473 [GRCh38]
Chr12:121435276 [GRCh37]
Chr12:12q24.31
pathogenic
NM_000545.8(HNF1A):c.343G>T (p.Val115Leu) single nucleotide variant Maturity-onset diabetes of the young, type 3 [RCV001248888] Chr12:120988849 [GRCh38]
Chr12:121426652 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000545.8(HNF1A):c.748C>T (p.Gln250Ter) single nucleotide variant Maturity-onset diabetes of the young, type 3 [RCV001248892] Chr12:120994198 [GRCh38]
Chr12:121432001 [GRCh37]
Chr12:12q24.31
likely pathogenic
NM_000545.8(HNF1A):c.1396C>T (p.Gln466Ter) single nucleotide variant Maturity-onset diabetes of the young, type 3 [RCV001248943] Chr12:120997560 [GRCh38]
Chr12:121435363 [GRCh37]
Chr12:12q24.31
pathogenic
NM_000545.8(HNF1A):c.1502-6G>A single nucleotide variant Maturity-onset diabetes of the young, type 3 [RCV001248994] Chr12:120999262 [GRCh38]
Chr12:121437065 [GRCh37]
Chr12:12q24.31
pathogenic
NM_000545.8(HNF1A):c.1135C>A (p.Pro379Thr) single nucleotide variant Diabetes mellitus, insulin-dependent, 20 [RCV001293984]|Maturity-onset diabetes of the young, type 3 [RCV001249082] Chr12:120996568 [GRCh38]
Chr12:121434371 [GRCh37]
Chr12:12q24.31
pathogenic|uncertain significance
NM_000545.8(HNF1A):c.872C>A (p.Pro291Gln) single nucleotide variant not provided [RCV001036408] Chr12:120994322 [GRCh38]
Chr12:121432125 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000545.8(HNF1A):c.1193_1195delinsGGT (p.Gln398_Gln399delinsArgTer) indel not provided [RCV001008744] Chr12:120996626..120996628 [GRCh38]
Chr12:121434429..121434431 [GRCh37]
Chr12:12q24.31
likely pathogenic
NM_000545.8(HNF1A):c.1727A>C (p.Gln576Pro) single nucleotide variant Maturity-onset diabetes of the young, type 3 [RCV001112247] Chr12:120999586 [GRCh38]
Chr12:121437389 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000545.8(HNF1A):c.1541dup (p.His514fs) duplication Maturity-onset diabetes of the young, type 3 [RCV001253694] Chr12:120999306..120999307 [GRCh38]
Chr12:121437109..121437110 [GRCh37]
Chr12:12q24.31
pathogenic
NM_000545.8(HNF1A):c.1274C>T (p.Thr425Met) single nucleotide variant Diabetes mellitus, insulin-dependent, 20 [RCV001293985]|Maturity-onset diabetes of the young, type 3 [RCV001258181] Chr12:120996707 [GRCh38]
Chr12:121434510 [GRCh37]
Chr12:12q24.31
uncertain significance
GRCh37/hg19 12q24.31(chr12:121253899-121570366)x3 copy number gain not provided [RCV001260172] Chr12:121253899..121570366 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000545.8(HNF1A):c.1478T>C (p.Met493Thr) single nucleotide variant Renal cell carcinoma, nonpapillary [RCV001292963] Chr12:120997642 [GRCh38]
Chr12:121435445 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000545.8(HNF1A):c.894G>A (p.Ala298=) single nucleotide variant Diabetes mellitus, insulin-dependent, 20 [RCV001262216] Chr12:120994344 [GRCh38]
Chr12:121432147 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000545.8(HNF1A):c.1243G>A (p.Gly415Arg) single nucleotide variant not specified [RCV001280592] Chr12:120996676 [GRCh38]
Chr12:121434479 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000545.8(HNF1A):c.1731C>A (p.His577Gln) single nucleotide variant Maturity-onset diabetes of the young, type 3 [RCV001258182] Chr12:120999590 [GRCh38]
Chr12:121437393 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000545.8(HNF1A):c.58G>A (p.Gly20Arg) single nucleotide variant Diabetes mellitus, insulin-dependent, 20 [RCV001335402] Chr12:120978826 [GRCh38]
Chr12:121416629 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000545.8(HNF1A):c.355G>A (p.Val119Ile) single nucleotide variant not provided [RCV001339287] Chr12:120988861 [GRCh38]
Chr12:121426664 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000545.8(HNF1A):c.1637A>C (p.Asp546Ala) single nucleotide variant not provided [RCV001288064] Chr12:120999496 [GRCh38]
Chr12:121437299 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000545.8(HNF1A):c.1699G>A (p.Val567Ile) single nucleotide variant not provided [RCV001288065] Chr12:120999558 [GRCh38]
Chr12:121437361 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000545.8(HNF1A):c.1769T>C (p.Val590Ala) single nucleotide variant not provided [RCV001288067] Chr12:121001065 [GRCh38]
Chr12:121438868 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000545.8(HNF1A):c.367C>G (p.Leu123Val) single nucleotide variant not provided [RCV001288070] Chr12:120988873 [GRCh38]
Chr12:121426676 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000545.8(HNF1A):c.716C>A (p.Ala239Glu) single nucleotide variant not provided [RCV001288074] Chr12:120994166 [GRCh38]
Chr12:121431969 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000545.8(HNF1A):c.978G>A (p.Ala326=) single nucleotide variant not provided [RCV001288503] Chr12:120996284 [GRCh38]
Chr12:121434087 [GRCh37]
Chr12:12q24.31
likely benign
NM_000545.8(HNF1A):c.26A>G (p.Gln9Arg) single nucleotide variant not provided [RCV001288069] Chr12:120978794 [GRCh38]
Chr12:121416597 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000545.8(HNF1A):c.1463_1473del (p.Pro488fs) deletion not provided [RCV001289316] Chr12:120997624..120997634 [GRCh38]
Chr12:121435427..121435437 [GRCh37]
Chr12:12q24.31
pathogenic
NM_000545.8(HNF1A):c.766T>A (p.Ser256Thr) single nucleotide variant not provided [RCV001320339] Chr12:120994216 [GRCh38]
Chr12:121432019 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000545.8(HNF1A):c.775G>A (p.Val259Ile) single nucleotide variant Diabetes mellitus, insulin-dependent, 20 [RCV001294066] Chr12:120994225 [GRCh38]
Chr12:121432028 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000545.8(HNF1A):c.527-18G>A single nucleotide variant not provided [RCV001288072] Chr12:120993502 [GRCh38]
Chr12:121431305 [GRCh37]
Chr12:12q24.31
uncertain significance
GRCh37/hg19 12q24.31(chr12:121200681-121428630)x1 copy number loss See cases [RCV001270258] Chr12:121200681..121428630 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000545.8(HNF1A):c.1524G>T (p.Glu508Asp) single nucleotide variant not provided [RCV001347775] Chr12:120999290 [GRCh38]
Chr12:121437093 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000545.8(HNF1A):c.1022del (p.Pro340_Leu341insTer) deletion Diabetes mellitus, insulin-dependent, 20 [RCV001335401] Chr12:120996327 [GRCh38]
Chr12:121434130 [GRCh37]
Chr12:12q24.31
pathogenic
NM_000545.8(HNF1A):c.1706G>A (p.Ser569Asn) single nucleotide variant not provided [RCV001288066] Chr12:120999565 [GRCh38]
Chr12:121437368 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000545.8(HNF1A):c.388C>T (p.Gln130Ter) single nucleotide variant not provided [RCV001288071] Chr12:120988894 [GRCh38]
Chr12:121426697 [GRCh37]
Chr12:12q24.31
pathogenic
NM_000545.8(HNF1A):c.537T>C (p.His179=) single nucleotide variant not provided [RCV001288073] Chr12:120993530 [GRCh38]
Chr12:121431333 [GRCh37]
Chr12:12q24.31
likely benign
NM_000545.8(HNF1A):c.780G>A (p.Thr260=) single nucleotide variant not provided [RCV001325537] Chr12:120994230 [GRCh38]
Chr12:121432033 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000545.8(HNF1A):c.125G>A (p.Gly42Asp) single nucleotide variant not provided [RCV001289315] Chr12:120978893 [GRCh38]
Chr12:121416696 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000545.8(HNF1A):c.1380_1406del (p.Gln460_Leu468del) deletion not provided [RCV001326514] Chr12:120997539..120997565 [GRCh38]
Chr12:121435342..121435368 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000545.8(HNF1A):c.680_683delinsTCCTCCACTT (p.Glu227_Glu228delinsValLeuHisLeu) indel not specified [RCV001293584] Chr12:120993673..120993676 [GRCh38]
Chr12:121431476..121431479 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_000545.8(HNF1A):c.824A>C (p.Glu275Ala) single nucleotide variant Diabetes mellitus, insulin-dependent, 20 [RCV001294067] Chr12:120994274 [GRCh38]
Chr12:121432077 [GRCh37]
Chr12:12q24.31
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11621 AgrOrtholog
COSMIC HNF1A COSMIC
Ensembl Genes ENSG00000135100 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000257555 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000438565 UniProtKB/TrEMBL
  ENSP00000438804 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000439721 UniProtKB/TrEMBL
  ENSP00000440361 UniProtKB/Swiss-Prot
  ENSP00000443112 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000443964 UniProtKB/Swiss-Prot
  ENSP00000445445 UniProtKB/Swiss-Prot
  ENSP00000453965 UniProtKB/TrEMBL
  ENSP00000476181 UniProtKB/TrEMBL
  ENSP00000481967 UniProtKB/TrEMBL
  ENSP00000483994 UniProtKB/TrEMBL
Ensembl Transcript ENST00000257555 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000400024 UniProtKB/TrEMBL
  ENST00000538646 UniProtKB/Swiss-Prot
  ENST00000540108 UniProtKB/Swiss-Prot
  ENST00000541395 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000541924 UniProtKB/Swiss-Prot
  ENST00000543427 UniProtKB/TrEMBL
  ENST00000544413 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000544574 UniProtKB/TrEMBL
  ENST00000560968 UniProtKB/TrEMBL
  ENST00000615446 UniProtKB/TrEMBL
  ENST00000617366 UniProtKB/TrEMBL
Gene3D-CATH 1.10.260.40 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000135100 GTEx
HGNC ID HGNC:11621 ENTREZGENE
Human Proteome Map HNF1A Human Proteome Map
InterPro HNF-1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HNF-1_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HNF1_dimer_N_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HNF1a_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HNF1b_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Homeobox-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Homeobox_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Lambda_DNA-bd_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:6927 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 6927 ENTREZGENE
OMIM 125853 OMIM
  142330 OMIM
  142410 OMIM
  144700 OMIM
  222100 OMIM
  600496 OMIM
  612520 OMIM
PANTHER PTHR11568 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam HNF-1_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HNF-1A_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HNF-1B_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB HNF1A RGD, PharmGKB
PROSITE HNF_P1 UniProtKB/Swiss-Prot
  HOMEOBOX_1 UniProtKB/Swiss-Prot
  HOMEOBOX_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  POU_4 UniProtKB/Swiss-Prot
SMART HOX UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF100957 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF46689 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF47413 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A087WYP0_HUMAN UniProtKB/TrEMBL
  A0A0A0MQU7_HUMAN UniProtKB/TrEMBL
  A0A0A0MTK8_HUMAN UniProtKB/TrEMBL
  E0YMI7_HUMAN UniProtKB/TrEMBL
  E0YMI8_HUMAN UniProtKB/TrEMBL
  E0YMI9_HUMAN UniProtKB/TrEMBL
  E0YMJ0_HUMAN UniProtKB/TrEMBL
  E0YMJ1_HUMAN UniProtKB/TrEMBL
  E0YMJ2_HUMAN UniProtKB/TrEMBL
  E0YMJ3_HUMAN UniProtKB/TrEMBL
  E0YMJ4_HUMAN UniProtKB/TrEMBL
  E0YMK2_HUMAN UniProtKB/TrEMBL
  E0YMK3_HUMAN UniProtKB/TrEMBL
  F5H0K0_HUMAN UniProtKB/TrEMBL
  F5H3Z5_HUMAN UniProtKB/TrEMBL
  H0YND5_HUMAN UniProtKB/TrEMBL
  HNF1A_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  U3KQS6_HUMAN UniProtKB/TrEMBL
UniProt Secondary A5Z2R8 UniProtKB/Swiss-Prot
  E0YMJ5 UniProtKB/Swiss-Prot
  E0YMK0 UniProtKB/Swiss-Prot
  E0YMK1 UniProtKB/Swiss-Prot
  E2I9R4 UniProtKB/Swiss-Prot
  E2I9R5 UniProtKB/Swiss-Prot
  F5H5U3 UniProtKB/Swiss-Prot
  Q2M3H2 UniProtKB/Swiss-Prot
  Q99861 UniProtKB/Swiss-Prot