RGD:14698057 Rat Genome Database

Variant: RGD:14698057 - Homo sapiens

RGD ID:

14698057

ClinVar ID:

CV623543

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

HNF1B

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	17	36,104,769
GRCh38	17	37,744,778

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001165923.4:c.107C>T NM_001304286.2:c.107C>T NP_001159395.1:p.Ser36Phe NM_000458.4:c.107C>T More...	08/21/2022	missense variant	likely benign\|uncertain significance	Diabetes mellitus, noninsulin-dependent, late onset; DIABETES MELLITUS, TYPE 2, PROTECTION AGAINST; Familial hypoplastic, glomerulocystic kidney; FJHN atypical; Glomerulocystic kidney disease, hypoplastic type; Hyperuricemic nephropathy, familial juvenile, atypical; Mason type diabetes; Maturity-onset diabetes of the young, type 5; MODY type 5; none provided; Nonpapillary renal cell carcinoma; Type 2 diabetes mellitus; Type II diabetes mellitus

Disease Annotations Click to see Annotation Detail View

maturity-onset diabetes of the young (IAGP)

maturity-onset diabetes of the young type 5 (IAGP)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Clear cell renal cell carcinoma (IAGP)

Type II diabetes mellitus (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	HNF1B
Accession:	XM_011525163
Location:	EXON
Amino Acid Prediction:	S to F (nonsynonymous)
Amino Acid Position:	36

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVSKLTSLQQELLSALLSSGVTKEVLVQALEELLPFPNFGVKLETLPLSPGSGAEPDTKPVFHTLTNGHAKGRLSGDEGS EDGDDYDTPPILKELQALNTEEAAEQRAEVDRMLSEDPWRAAKMIKGYMQQHNIPQREVVDVTGLNQSHLSQHLNKGTPM KTQKRAALYTWYVRKQREILRQFNQTVQSSGNMTDKSSQDQLLFLFPEFSQQSHGPGQSDDACSEPTNKKMRRNRFKWGP ASQQILYQAYDRQKNPSKEEREALVEECNRAECLQRGVSPSKAHGLGSNLVTEVRVYNWFANRRKEEAFRQKLAMDAYSS NQTHSLNPLLSHGSPHHQPSSSPPNKLSGTVCC*

Gene Symbol:	HNF1B
Accession:	XM_011525161
Location:	EXON
Amino Acid Prediction:	S to F (nonsynonymous)
Amino Acid Position:	36

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVSKLTSLQQELLSALLSSGVTKEVLVQALEELLPFPNFGVKLETLPLSPGSGAEPDTKPVFHTLTNGHAKGRLSGDEGS EDGDDYDTPPILKELQALNTEEAAEQRAEVDRMLSEDPWRAAKMIKGYMQQHNIPQREVVDVTGLNQSHLSQHLNKGTPM KTQKRAALYTWYVRKQREILRQFNQTVQSSGNMTDKSSQDQLLFLFPEFSQQSHGPGQSDDACSEPTNKKMRRNRFKWGP ASQQILYQAYDRQKNPSKEEREALVEECNRAECLQRGVSPSKAHGLGSNLVTEVRVYNWFANRRKEEAFRQKLAMDAYSS NQTHSLNPLLSHGSPHHQPSSSPPNKLSGVRYSQQGNNEITSSSTISHHGNSAMVTSQSVLQQVSPASLDPGHNLLSPDG KMISVSGGGLPPVSTLTNIHSLSHHNPQQSQNLIMTPLSGVMAIAQMYAHKQEPPQYSHTSRFPSAMVVTDTSSISTLTN MSSSKQCPLQAW*

Gene Symbol:	HNF1B
Accession:	XM_047436630
Location:	EXON
Amino Acid Prediction:	S to F (nonsynonymous)
Amino Acid Position:	36

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVSKLTSLQQELLSALLSSGVTKEVLVQALEELLPFPNFGVKLETLPLSPGSGAEPDTKPVFHTLTNGHAKGRLSGDEGS EDGDDYDTPPILKELQALNTEEAAEQRAEVDRMLSEDPWRAAKMIKGYMQQHNIPQREVVDVTGLNQSHLSQHLNKGTPM KTQKRAALYTWYVRKQREILRQFSQQSHGPGQSDDACSEPTNKKMRRNRFKWGPASQQILYQAYDRQKNPSKEEREALVE ECNRAECLQRGVSPSKAHGLGSNLVTEVRVYNWFANRRKEEAFRQKLAMDAYSSNQTHSLNPLLSHGSPHHQPSSSPPNK LSGVRYSQQGNNEITSSSTISHHGNSAMVTSQSVLQQVSPASLDPGHNLLSPDGKMISVSGGGLPPVSTLTNIHSLSHHN PQQSQNLIMTPLSGVMAIAQMYAHKQEPPQYSHTSRFPSAMVVTDTSSISTLTNMSSSKQCPLQAW*

Gene Symbol:	HNF1B
Accession:	XM_047436631
Location:	EXON
Amino Acid Prediction:	S to F (nonsynonymous)
Amino Acid Position:	36

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVSKLTSLQQELLSALLSSGVTKEVLVQALEELLPFPNFGVKLETLPLSPGSGAEPDTKPVFHTLTNGHAKGRLSGDEGS EDGDDYDTPPILKELQALNTEEAAEQRAEVDRMLSEDPWRAAKMIKGYMQQHNIPQREVVDVTGLNQSHLSQHLNKGTPM KTQKRAALYTWYVRKQREILRQFSQQSHGPGQSDDACSEPTNKKMRRNRFKWGPASQQILYQAYDRQKNPSKEEREALVE ECNRAECLQRGVSPSKAHGLGSNLVTEVRVYNWFANRRKEEAFRQKLAMDAYSSNQTHSLNPLLSHGSPHHQPSSSPPNK LSGVLWMETEMSGRSSSLSTTLQPGELEGLHPYL*

Gene Symbol:	HNF1B
Accession:	NM_001411100
Location:	EXON
Amino Acid Prediction:	S to F (nonsynonymous)
Amino Acid Position:	36

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVSKLTSLQQELLSALLSSGVTKEVLVQALEELLPFPNFGVKLETLPLSPGSGAEPDTKPVFHTLTNGHAKGRLSGDEGS EDGDDYDTPPILKELQALNTEEAAEQRAEVDRMLSEDPWRAAKMIKGYMQQHNIPQREVVDVTGLNQSHLSQHLNKGTPM KTQKRAALYTWYVRKQREILRQFNQTVQSSGNMTDKSSQDQLLFLFPEFSQQSHGPGQSDDACSEPTNKKMRRNRFKWGP ASQQILYQAYDRQKNPSKEEREALVEECNRAECLQRGVSPSKAHGLGSNLVTEVRVYNWFANRRKEEAFRQKLAMDAYSS NQTHSLNPLLSHGSPHHQPSSSPPNKLSGVRYSQQGNNEITSSSTISHHGNSAMVTSQSVLQQVSPASLDPGHNLLSPDG KMISVSGGGLPPVSTLTNIHSLSHHNPQQSQNLIMTPLSGVMAIAQSLNTSQAQSVPVINSVAGSLAALQPVQFSQQLHS PHQQPLMQQSPGSHMAQQPFMAAVTQLQNSHMSSTSLVMPTHHLLRAQQQGPCFPHHHPLGSCHGKAQ*

Gene Symbol:	HNF1B
Accession:	NM_001304286
Location:	EXON
Amino Acid Prediction:	S to F (nonsynonymous)
Amino Acid Position:	36

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVSKLTSLQQELLSALLSSGVTKEVLVQALEELLPFPNFGVKLETLPLSPGSGAEPDTKPVFHTLTNGHAKGRLSGDEGS EDGDDYDTPPILKELQALNTEEAAEQRAEVDRMLSEDPWRAAKMIKGYMQQHNIPQREVVDVTGLNQSHLSQHLNKGTPM KTQKRAALYTWYVRKQREILRQFSQQSHGPGQSDDACSEPTNKKMRRNRFKWGPASQQILYQAYDRQKNPSKEEREALVE ECNRAECLQRGVSPSKAHGLGSNLVTEVRVYNWFANRRKEEAFRQKLAMDAYSSNQTHSLNPLLSHGSPHHQPSSSPPNK LSGVRYSQQGNNEITSSSTISHHGNSAMVTSQSVLQQVSPASLDPGHNLLSPDGKMISVSGGGLPPVSTLTNIHSLSHHN PQQSQNLIMTPLSGVMAIAQMSSTSLVMPTHHLLRAQQQGPCFPHHHPLGSCHGKAQ*

Gene Symbol:	HNF1B
Accession:	XM_011525162
Location:	EXON
Amino Acid Prediction:	S to F (nonsynonymous)
Amino Acid Position:	36

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVSKLTSLQQELLSALLSSGVTKEVLVQALEELLPFPNFGVKLETLPLSPGSGAEPDTKPVFHTLTNGHAKGRLSGDEGS EDGDDYDTPPILKELQALNTEEAAEQRAEVDRMLSEDPWRAAKMIKGYMQQHNIPQREVVDVTGLNQSHLSQHLNKGTPM KTQKRAALYTWYVRKQREILRQFNQTVQSSGNMTDKSSQDQLLFLFPEFSQQSHGPGQSDDACSEPTNKKMRRNRFKWGP ASQQILYQAYDRQKNPSKEEREALVEECNRAECLQRGVSPSKAHGLGSNLVTEVRVYNWFANRRKEEAFRQKLAMDAYSS NQTHSLNPLLSHGSPHHQPSSSPPNKLSGVLWMETEMSGRSSSLSTTLQPGELEGLHPYL*

Gene Symbol:	HNF1B
Accession:	XM_011525164
Location:	EXON
Amino Acid Prediction:	S to F (nonsynonymous)
Amino Acid Position:	36

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVSKLTSLQQELLSALLSSGVTKEVLVQALEELLPFPNFGVKLETLPLSPGSGAEPDTKPVFHTLTNGHAKGRLSGDEGS EDGDDYDTPPILKELQALNTEEAAEQRAEVDRMLSEDPWRAAKMIKGYMQQHNIPQREVVDVTGLNQSHLSQHLNKGTPM KTQKRAALYTWYVRKQREILRQFSQQSHGPGQSDDACSEPTNKKMRRNRFKWGPASQQILYQAYDRQKNPSKEEREALVE ECNRAECLQRGVSPSKAHGLGSNLVTEVRVYNWFANRRKEEAFRQKLAMDAYSSNQTHSLNPLLSHGSPHHQPSSSPPNK LSGVRYSQQGNNEITSSSTISHHGNSAMVTSQSVLQQVSPASLDPGHNLLSPDGKMISVSGGGLPPVSTLTNIHSLSHHN PQQSQNLIMTPLSGVMAIAQSLNTSQAQSVPVINSVAGSLAALQPVQFSQQLHSPHQQPLMQQSPGSHMAQQPFMAAVTQ LQNSHMSSTSLVMPTHHLLRAQQQGPCFPHHHPLGSCHGKAQ*

Gene Symbol:	HNF1B
Accession:	NM_001165923
Location:	EXON
Amino Acid Prediction:	S to F (nonsynonymous)
Amino Acid Position:	36

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVSKLTSLQQELLSALLSSGVTKEVLVQALEELLPFPNFGVKLETLPLSPGSGAEPDTKPVFHTLTNGHAKGRLSGDEGS EDGDDYDTPPILKELQALNTEEAAEQRAEVDRMLSEDPWRAAKMIKGYMQQHNIPQREVVDVTGLNQSHLSQHLNKGTPM KTQKRAALYTWYVRKQREILRQFSQQSHGPGQSDDACSEPTNKKMRRNRFKWGPASQQILYQAYDRQKNPSKEEREALVE ECNRAECLQRGVSPSKAHGLGSNLVTEVRVYNWFANRRKEEAFRQKLAMDAYSSNQTHSLNPLLSHGSPHHQPSSSPPNK LSGVRYSQQGNNEITSSSTISHHGNSAMVTSQSVLQQVSPASLDPGHNLLSPDGKMISVSGGGLPPVSTLTNIHSLSHHN PQQSQNLIMTPLSGVMAIAQSLNTSQAQSVPVINSVAGSLAALQPVQFSQQLHSPHQQPLMQQSPGSHMAQQPFMAAVTQ LQNSHMYAHKQEPPQYSHTSRFPSAMVVTDTSSISTLTNMSSSKQCPLQAW*

Gene Symbol:	HNF1B
Accession:	NM_000458
Location:	EXON
Amino Acid Prediction:	S to F (nonsynonymous)
Amino Acid Position:	36

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVSKLTSLQQELLSALLSSGVTKEVLVQALEELLPFPNFGVKLETLPLSPGSGAEPDTKPVFHTLTNGHAKGRLSGDEGS EDGDDYDTPPILKELQALNTEEAAEQRAEVDRMLSEDPWRAAKMIKGYMQQHNIPQREVVDVTGLNQSHLSQHLNKGTPM KTQKRAALYTWYVRKQREILRQFNQTVQSSGNMTDKSSQDQLLFLFPEFSQQSHGPGQSDDACSEPTNKKMRRNRFKWGP ASQQILYQAYDRQKNPSKEEREALVEECNRAECLQRGVSPSKAHGLGSNLVTEVRVYNWFANRRKEEAFRQKLAMDAYSS NQTHSLNPLLSHGSPHHQPSSSPPNKLSGVRYSQQGNNEITSSSTISHHGNSAMVTSQSVLQQVSPASLDPGHNLLSPDG KMISVSGGGLPPVSTLTNIHSLSHHNPQQSQNLIMTPLSGVMAIAQSLNTSQAQSVPVINSVAGSLAALQPVQFSQQLHS PHQQPLMQQSPGSHMAQQPFMAAVTQLQNSHMYAHKQEPPQYSHTSRFPSAMVVTDTSSISTLTNMSSSKQCPLQAW*

Gene Symbol:
Accession:
Location:	EXON
Amino Acid Prediction:	S to F (nonsynonymous)
Amino Acid Position:	36

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVSKLTSLQQELLSALLSSGVTKEVLVQALEELLPFPNFGVKLETLPLSPGSGAEPDTKPVFHTLTNGHAKGRLSGDEGS EDGDDYDTPPILKELQALNTEEAAEQRAEVDRMLSEDPWRAAKMIKGYMQQHNIPQREVVDVTGLNQSHLSQHLNKGTPM KTQKRAALYTWYVRKQREILRQFNQTVQSSGNMTDKSSQDQLLFLFPEFSQQSHGPGQSDDACSEPTNKKMRRNRFKWGP ASQQILYQAYDRQKNPSKEEREALVEECNRAECLQRGVSPSKAHGLGSNLVTEVRVYNWFANRRKEEAFRQKLAMDAYSS NQTHSLNPLLSHGSPHHQPSSSPPNKLSGVRYSQQGNNEITSSSTISHHGNSAMVTSQSVLQQVSPASLDPGHNLLSPDG KMISVSGGGLPPVSTLTNIHSLSHHNPQQSQNLIMTPLSGVMAIAQSLNTSQAQSVPVINSVAGSLAALQPVQFSQQLHS PHQQPLMQQSPGSHMAQQPFMAAVTQLQNSHMSSTSLVMPTHHLLRAQQQGPCFPHHHPLGSCHGKAQ*

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:11845238	PMID:25536396	PMID:25700310	PMID:25705165	PMID:25741868	PMID:28492532

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000787256	CLINVAR
	RCV001248883	CLINVAR
	RCV002487621	CLINVAR
	RCV002535751	CLINVAR
MedGen	C0342276	CLINVAR
	C0431693	CLINVAR
	C3661900	CLINVAR
NCBI Gene	HNF1B	CLINVAR
OMIM	125853	CLINVAR
	137920	CLINVAR
	144700	CLINVAR
	189907	CLINVAR
	606391	CLINVAR
SNOMED CT	253864004	CLINVAR
	28453007	CLINVAR

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Variant: RGD:14698057 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar

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Variant: RGD:14698057 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar