RGD:13833564 Rat Genome Database

Variant: RGD:13833564 - Homo sapiens

RGD ID:

13833564

RS ID:

rs780554506

ClinVar ID:

CV584799

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

HNF1B

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	17	36,059,196
GRCh38	17	37,699,190

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
NG_013019.2:g.50917C>T NC_000017.11:g.37699190G>A NC_000017.10:g.36059196G>A NP_000449.1:p.Tyr513= More...	12/16/2021	intron variant	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	Mason type diabetes; none provided

Disease Annotations Click to see Annotation Detail View

maturity-onset diabetes of the young (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	HNF1B
Accession:	XM_047436630
Location:	EXON
Amino Acid Prediction:	Y to Y (synonymous)
Amino Acid Position:	422

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

Gene Symbol:	HNF1B
Accession:	NM_001165923
Location:	EXON
Amino Acid Prediction:	Y to Y (synonymous)
Amino Acid Position:	487

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

Gene Symbol:	HNF1B
Accession:	XM_011525161
Location:	EXON
Amino Acid Prediction:	Y to Y (synonymous)
Amino Acid Position:	448

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

Gene Symbol:	HNF1B
Accession:	NM_000458
Location:	EXON
Amino Acid Prediction:	Y to Y (synonymous)
Amino Acid Position:	513

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

Gene Symbol:	HNF1B
Accession:	XM_011525163
Location:	INTRON

Gene Symbol:	HNF1B
Accession:	XM_011525164
Location:	INTRON

Gene Symbol:	HNF1B
Accession:	NM_001411100
Location:	INTRON

Gene Symbol:	HNF1B
Accession:	NM_001304286
Location:	INTRON

Gene Symbol:	HNF1B
Accession:	XM_047436631
Location:	INTRON

Gene Symbol:
Accession:
Location:	INTRON

Gene Symbol:	HNF1B
Accession:	XM_011525162
Location:	INTRON

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:19639018	PMID:24897035	PMID:25536396	PMID:25741167	PMID:26340261	PMID:27615128	PMID:28215227	PMID:28492532	PMID:33434175

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000728863	CLINVAR
	RCV002397504	CLINVAR
dbSNP (RS)	rs780554506	CLINVAR
MedGen	C0342276	CLINVAR
	C3661900	CLINVAR
NCBI Gene	HNF1B	CLINVAR
OMIM	189907	CLINVAR
	606391	CLINVAR
SNOMED CT	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)

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Variant: RGD:13833564 - Homo sapiens

Imported Disease Annotations - ClinVar