RGD:13837045 Rat Genome Database

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Variant: RGD:13837045 -  Homo sapiens

RGD ID: 13837045
RS ID: rs752480540
ClinVar ID: CV588329
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HNF1B  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 17 36,059,144
GRCh38 17 37,699,138
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_013019.2:g.50969G>C
NC_000017.11:g.37699138C>G
NC_000017.10:g.36059144C>G
NP_000449.1:p.Ala531Pro
More... 		04/26/2022 intron variant likely risk allele|uncertain significance Mason type diabetes; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:HNF1B
Accession:XM_011525161
Location:EXON
Amino Acid Prediction: A to P (nonsynonymous)
Amino Acid Position: 466
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVSKLTSLQQELLSALLSSGVTKEVLVQALEELLPSPNFGVKLETLPLSPGSGAEPDTKPVFHTLTNGHAKGRLSGDEGS
EDGDDYDTPPILKELQALNTEEAAEQRAEVDRMLSEDPWRAAKMIKGYMQQHNIPQREVVDVTGLNQSHLSQHLNKGTPM
KTQKRAALYTWYVRKQREILRQFNQTVQSSGNMTDKSSQDQLLFLFPEFSQQSHGPGQSDDACSEPTNKKMRRNRFKWGP
ASQQILYQAYDRQKNPSKEEREALVEECNRAECLQRGVSPSKAHGLGSNLVTEVRVYNWFANRRKEEAFRQKLAMDAYSS
NQTHSLNPLLSHGSPHHQPSSSPPNKLSGVRYSQQGNNEITSSSTISHHGNSAMVTSQSVLQQVSPASLDPGHNLLSPDG
KMISVSGGGLPPVSTLTNIHSLSHHNPQQSQNLIMTPLSGVMAIAQMYAHKQEPPQYSHTSRFPSPMVVTDTSSISTLTN
MSSSKQCPLQAW*

Gene Symbol:HNF1B
Accession:NM_000458
Location:EXON
Amino Acid Prediction: A to P (nonsynonymous)
Amino Acid Position: 531
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVSKLTSLQQELLSALLSSGVTKEVLVQALEELLPSPNFGVKLETLPLSPGSGAEPDTKPVFHTLTNGHAKGRLSGDEGS
EDGDDYDTPPILKELQALNTEEAAEQRAEVDRMLSEDPWRAAKMIKGYMQQHNIPQREVVDVTGLNQSHLSQHLNKGTPM
KTQKRAALYTWYVRKQREILRQFNQTVQSSGNMTDKSSQDQLLFLFPEFSQQSHGPGQSDDACSEPTNKKMRRNRFKWGP
ASQQILYQAYDRQKNPSKEEREALVEECNRAECLQRGVSPSKAHGLGSNLVTEVRVYNWFANRRKEEAFRQKLAMDAYSS
NQTHSLNPLLSHGSPHHQPSSSPPNKLSGVRYSQQGNNEITSSSTISHHGNSAMVTSQSVLQQVSPASLDPGHNLLSPDG
KMISVSGGGLPPVSTLTNIHSLSHHNPQQSQNLIMTPLSGVMAIAQSLNTSQAQSVPVINSVAGSLAALQPVQFSQQLHS
PHQQPLMQQSPGSHMAQQPFMAAVTQLQNSHMYAHKQEPPQYSHTSRFPSPMVVTDTSSISTLTNMSSSKQCPLQAW*

Gene Symbol:HNF1B
Accession:XM_047436630
Location:EXON
Amino Acid Prediction: A to P (nonsynonymous)
Amino Acid Position: 440
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVSKLTSLQQELLSALLSSGVTKEVLVQALEELLPSPNFGVKLETLPLSPGSGAEPDTKPVFHTLTNGHAKGRLSGDEGS
EDGDDYDTPPILKELQALNTEEAAEQRAEVDRMLSEDPWRAAKMIKGYMQQHNIPQREVVDVTGLNQSHLSQHLNKGTPM
KTQKRAALYTWYVRKQREILRQFSQQSHGPGQSDDACSEPTNKKMRRNRFKWGPASQQILYQAYDRQKNPSKEEREALVE
ECNRAECLQRGVSPSKAHGLGSNLVTEVRVYNWFANRRKEEAFRQKLAMDAYSSNQTHSLNPLLSHGSPHHQPSSSPPNK
LSGVRYSQQGNNEITSSSTISHHGNSAMVTSQSVLQQVSPASLDPGHNLLSPDGKMISVSGGGLPPVSTLTNIHSLSHHN
PQQSQNLIMTPLSGVMAIAQMYAHKQEPPQYSHTSRFPSPMVVTDTSSISTLTNMSSSKQCPLQAW*

Gene Symbol:HNF1B
Accession:NM_001165923
Location:EXON
Amino Acid Prediction: A to P (nonsynonymous)
Amino Acid Position: 505
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVSKLTSLQQELLSALLSSGVTKEVLVQALEELLPSPNFGVKLETLPLSPGSGAEPDTKPVFHTLTNGHAKGRLSGDEGS
EDGDDYDTPPILKELQALNTEEAAEQRAEVDRMLSEDPWRAAKMIKGYMQQHNIPQREVVDVTGLNQSHLSQHLNKGTPM
KTQKRAALYTWYVRKQREILRQFSQQSHGPGQSDDACSEPTNKKMRRNRFKWGPASQQILYQAYDRQKNPSKEEREALVE
ECNRAECLQRGVSPSKAHGLGSNLVTEVRVYNWFANRRKEEAFRQKLAMDAYSSNQTHSLNPLLSHGSPHHQPSSSPPNK
LSGVRYSQQGNNEITSSSTISHHGNSAMVTSQSVLQQVSPASLDPGHNLLSPDGKMISVSGGGLPPVSTLTNIHSLSHHN
PQQSQNLIMTPLSGVMAIAQSLNTSQAQSVPVINSVAGSLAALQPVQFSQQLHSPHQQPLMQQSPGSHMAQQPFMAAVTQ
LQNSHMYAHKQEPPQYSHTSRFPSPMVVTDTSSISTLTNMSSSKQCPLQAW*

Gene Symbol:HNF1B
Accession:XM_047436631
Location:INTRON

Gene Symbol:HNF1B
Accession:XM_011525162
Location:INTRON

Gene Symbol:HNF1B
Accession:NM_001304286
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:HNF1B
Accession:XM_011525164
Location:INTRON

Gene Symbol:HNF1B
Accession:NM_001411100
Location:INTRON

Gene Symbol:HNF1B
Accession:XM_011525163
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:19639018   PMID:24897035   PMID:25536396   PMID:25741167   PMID:26340261   PMID:27615128   PMID:28215227   PMID:28492532   PMID:33434175  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000733332 CLINVAR
  RCV002465766 CLINVAR
dbSNP (RS) rs752480540 CLINVAR
MedGen C0342276 CLINVAR
  CN517202 CLINVAR
NCBI Gene HNF1B CLINVAR
OMIM 189907 CLINVAR
  606391 CLINVAR
SNOMED CT 28453007 CLINVAR