RGD:14697993 Rat Genome Database

Variant: RGD:14697993 - Homo sapiens

RGD ID:

14697993

ClinVar ID:

CV623464

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

HNF1B LOC127886632

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	17	36,091,813
GRCh38	17	37,731,822

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
NC_000017.10:g.36091813C>G NM_000458.3:c.818G>C NP_000449.1:p.Cys273Ser NM_000458.4:c.818G>C More...	07/06/2019	missense variant	likely pathogenic	Familial hypoplastic, glomerulocystic kidney; FJHN atypical; Glomerulocystic kidney disease, hypoplastic type; Hyperuricemic nephropathy, familial juvenile, atypical; Maturity-onset diabetes of the young, type 5; MODY type 5

Disease Annotations Click to see Annotation Detail View

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

Variant Details

Variant Transcripts

Gene Symbol:	HNF1B
Accession:	NM_001304286
Location:	EXON
Amino Acid Prediction:	C to S (nonsynonymous)
Amino Acid Position:	247

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVSKLTSLQQELLSALLSSGVTKEVLVQALEELLPSPNFGVKLETLPLSPGSGAEPDTKPVFHTLTNGHAKGRLSGDEGS EDGDDYDTPPILKELQALNTEEAAEQRAEVDRMLSEDPWRAAKMIKGYMQQHNIPQREVVDVTGLNQSHLSQHLNKGTPM KTQKRAALYTWYVRKQREILRQFSQQSHGPGQSDDACSEPTNKKMRRNRFKWGPASQQILYQAYDRQKNPSKEEREALVE ECNRAESLQRGVSPSKAHGLGSNLVTEVRVYNWFANRRKEEAFRQKLAMDAYSSNQTHSLNPLLSHGSPHHQPSSSPPNK LSGVRYSQQGNNEITSSSTISHHGNSAMVTSQSVLQQVSPASLDPGHNLLSPDGKMISVSGGGLPPVSTLTNIHSLSHHN PQQSQNLIMTPLSGVMAIAQMSSTSLVMPTHHLLRAQQQGPCFPHHHPLGSCHGKAQ*

Gene Symbol:
Accession:
Location:	EXON
Amino Acid Prediction:	C to S (nonsynonymous)
Amino Acid Position:	273

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

Gene Symbol:	HNF1B
Accession:	NM_000458
Location:	EXON
Amino Acid Prediction:	C to S (nonsynonymous)
Amino Acid Position:	273

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

Gene Symbol:	HNF1B
Accession:	XM_047436631
Location:	EXON
Amino Acid Prediction:	C to S (nonsynonymous)
Amino Acid Position:	247

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVSKLTSLQQELLSALLSSGVTKEVLVQALEELLPSPNFGVKLETLPLSPGSGAEPDTKPVFHTLTNGHAKGRLSGDEGS EDGDDYDTPPILKELQALNTEEAAEQRAEVDRMLSEDPWRAAKMIKGYMQQHNIPQREVVDVTGLNQSHLSQHLNKGTPM KTQKRAALYTWYVRKQREILRQFSQQSHGPGQSDDACSEPTNKKMRRNRFKWGPASQQILYQAYDRQKNPSKEEREALVE ECNRAESLQRGVSPSKAHGLGSNLVTEVRVYNWFANRRKEEAFRQKLAMDAYSSNQTHSLNPLLSHGSPHHQPSSSPPNK LSGVLWMETEMSGRSSSLSTTLQPGELEGLHPYL*

Gene Symbol:	HNF1B
Accession:	XM_011525163
Location:	EXON
Amino Acid Prediction:	C to S (nonsynonymous)
Amino Acid Position:	273

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVSKLTSLQQELLSALLSSGVTKEVLVQALEELLPSPNFGVKLETLPLSPGSGAEPDTKPVFHTLTNGHAKGRLSGDEGS EDGDDYDTPPILKELQALNTEEAAEQRAEVDRMLSEDPWRAAKMIKGYMQQHNIPQREVVDVTGLNQSHLSQHLNKGTPM KTQKRAALYTWYVRKQREILRQFNQTVQSSGNMTDKSSQDQLLFLFPEFSQQSHGPGQSDDACSEPTNKKMRRNRFKWGP ASQQILYQAYDRQKNPSKEEREALVEECNRAESLQRGVSPSKAHGLGSNLVTEVRVYNWFANRRKEEAFRQKLAMDAYSS NQTHSLNPLLSHGSPHHQPSSSPPNKLSGTVCC*

Gene Symbol:	HNF1B
Accession:	NM_001165923
Location:	EXON
Amino Acid Prediction:	C to S (nonsynonymous)
Amino Acid Position:	247

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

Gene Symbol:	HNF1B
Accession:	XM_047436630
Location:	EXON
Amino Acid Prediction:	C to S (nonsynonymous)
Amino Acid Position:	247

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVSKLTSLQQELLSALLSSGVTKEVLVQALEELLPSPNFGVKLETLPLSPGSGAEPDTKPVFHTLTNGHAKGRLSGDEGS EDGDDYDTPPILKELQALNTEEAAEQRAEVDRMLSEDPWRAAKMIKGYMQQHNIPQREVVDVTGLNQSHLSQHLNKGTPM KTQKRAALYTWYVRKQREILRQFSQQSHGPGQSDDACSEPTNKKMRRNRFKWGPASQQILYQAYDRQKNPSKEEREALVE ECNRAESLQRGVSPSKAHGLGSNLVTEVRVYNWFANRRKEEAFRQKLAMDAYSSNQTHSLNPLLSHGSPHHQPSSSPPNK LSGVRYSQQGNNEITSSSTISHHGNSAMVTSQSVLQQVSPASLDPGHNLLSPDGKMISVSGGGLPPVSTLTNIHSLSHHN PQQSQNLIMTPLSGVMAIAQMYAHKQEPPQYSHTSRFPSAMVVTDTSSISTLTNMSSSKQCPLQAW*

Gene Symbol:	HNF1B
Accession:	XM_011525164
Location:	EXON
Amino Acid Prediction:	C to S (nonsynonymous)
Amino Acid Position:	247

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

Gene Symbol:	HNF1B
Accession:	XM_011525162
Location:	EXON
Amino Acid Prediction:	C to S (nonsynonymous)
Amino Acid Position:	273

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVSKLTSLQQELLSALLSSGVTKEVLVQALEELLPSPNFGVKLETLPLSPGSGAEPDTKPVFHTLTNGHAKGRLSGDEGS EDGDDYDTPPILKELQALNTEEAAEQRAEVDRMLSEDPWRAAKMIKGYMQQHNIPQREVVDVTGLNQSHLSQHLNKGTPM KTQKRAALYTWYVRKQREILRQFNQTVQSSGNMTDKSSQDQLLFLFPEFSQQSHGPGQSDDACSEPTNKKMRRNRFKWGP ASQQILYQAYDRQKNPSKEEREALVEECNRAESLQRGVSPSKAHGLGSNLVTEVRVYNWFANRRKEEAFRQKLAMDAYSS NQTHSLNPLLSHGSPHHQPSSSPPNKLSGVLWMETEMSGRSSSLSTTLQPGELEGLHPYL*

Gene Symbol:	HNF1B
Accession:	XM_011525161
Location:	EXON
Amino Acid Prediction:	C to S (nonsynonymous)
Amino Acid Position:	273

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

Gene Symbol:	HNF1B
Accession:	NM_001411100
Location:	EXON
Amino Acid Prediction:	C to S (nonsynonymous)
Amino Acid Position:	273

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

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:20633866	PMID:25741868

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000787137	CLINVAR
MedGen	C0431693	CLINVAR
NCBI Gene	HNF1B	CLINVAR
OMIM	137920	CLINVAR
	189907	CLINVAR
SNOMED CT	253864004	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)

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Variant: RGD:14697993 - Homo sapiens

Imported Disease Annotations - ClinVar