RGD:156298127 Rat Genome Database

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Variant: RGD:156298127 -  Homo sapiens

RGD ID: 156298127
ClinVar ID: CV2329137
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LEPR  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 66,102,637
GRCh38 1 65,636,954
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_283t3:c.3437A>C
NM_002303.6:c.3437A>C
LRG_283:g.221390A>C
NG_015831.2:g.221390A>C
More... 		12/21/2022 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:LEPR
Accession:NM_002303
Location:EXON
Amino Acid Prediction: Q to P (nonsynonymous)
Amino Acid Position: 1146
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MICQKFCVVLLHWEFIYVITAFNLSYPITPWRFKLSCMPPNSTYDYFLLPAGLSKNTSNSNGHYETAVEPKFNSSGTHFS
NLSKTTFHCCFRSEQDRNCSLCADNIEGKTFVSTVNSLVFQQIDANWNIQCWLKGDLKLFICYVESLFKNLFRNYNYKVH
LLYVLPEVLEDSPLVPQKGSFQMVHCNCSVHECCECLVPVPTAKLNDTLLMCLKITSGGVIFQSPLMSVQPINMVKPDPP
LGLHMEITDDGNLKISWSSPPLVPFPLQYQVKYSENSTTVIREADKIVSATSLLVDSILPGSSYEVQVRGKRLDGPGIWS
DWSTPRVFTTQDVIYFPPKILTSVGSNVSFHCIYKKENKIVPSKEIVWWMNLAEKIPQSQYDVVSDHVSKVTFFNLNETK
PRGKFTYDAVYCCNEHECHHRYAELYVIDVNINISCETDGYLTKMTCRWSTSTIQSLAESTLQLRYHRSSLYCSDIPSIH
PISEPKDCYLQSDGFYECIFQPIFLLSGYTMWIRINHSLGSLDSPPTCVLPDSVVKPLPPSSVKAEITINIGLLKISWEK
PVFPENNLQFQIRYGLSGKEVQWKMYEVYDAKSKSVSLPVPDLCAVYAVQVRCKRLDGLGYWSNWSNPAYTVVMDIKVPM
RGPEFWRIINGDTMKKEKNVTLLWKPLMKNDSLCSVQRYVINHHTSCNGTWSEDVGNHTKFTFLWTEQAHTVTVLAINSI
GASVANFNLTFSWPMSKVNIVQSLSAYPLNSSCVIVSWILSPSDYKLMYFIIEWKNLNEDGEIKWLRISSSVKKYYIHDH
FIPIEKYQFSLYPIFMEGVGKPKIINSFTQDDIEKHQSDAGLYVIVPVIISSSILLLGTLLISHQRMKKLFWEDVPNPKN
CSWAQGLNFQKPETFEHLFIKHTASVTCGPLLLEPETISEDISVDTSWKNKDEMMPTTVVSLLSTTDLEKGSVCISDQFN
SVNFSEAEGTEVTYEDESQRQPFVKYATLISNSKPSETGEEQGLINSSVTKCFSSKNSPLKDSFSNSSWEIEAQAFFILS
DQHPNIISPHLTFSEGLDELLKLEGNFPEENNDKKSIYYLGVTSIKKRESGVLLTDKSRVSCPFPAPCLFTDIRVLQDSC
SHFVENNINLGTSSKKTFASYMPQFPTCSTQTHKIMENKMCDLTV*

Gene Symbol:LEPR
Accession:NM_001003679
Location:INTRON

Gene Symbol:LEPR
Accession:NM_001198689
Location:INTRON

Gene Symbol:LEPR
Accession:NM_001198687
Location:INTRON

Gene Symbol:LEPR
Accession:NM_001003680
Location:INTRON

Gene Symbol:LEPR
Accession:NM_001198688
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002936135 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene LEPR CLINVAR
OMIM 601007 CLINVAR