RGD:11581516 Rat Genome Database

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Variant: RGD:11581516 -  Homo sapiens

RGD ID: 11581516
RS ID: rs201792575
ClinVar ID: CV282110
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KLF11  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 2 10,187,822
GRCh38 2 10,047,695
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_017199.1:g.9141A>G
NC_000002.12:g.10047695A>G
NC_000002.11:g.10187822A>G
NP_003588.1:p.Arg120Gly
More... 		05/04/2022 missense variant uncertain significance Diabetes mellitus MODY type 7; MODY KLF11 related; MODY type 7
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:KLF11
Accession:XM_047446025
Location:EXON
Amino Acid Prediction: R to G (nonsynonymous)
Amino Acid Position: 103
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDICESILERKRHDSERSTCSILEQTDMEAVEALVCMSSWGQRSQKGDLLRIRPLTPVSDSGDVTTTVHMDAATPELPKD
FHSLSTLCITPPQSPDLVEPSTGTPVSPQVTDSKACTATDVLQSSAVVARALSGGAERGLLGLEPVPSSPCRAKGTSVIR
HTGESPAACFPTIQTPDCRLSDSREGEEQLLGHFETLQDTHLTDSLLSTNLVSCQPCLHKSGGLLLTDKGQQAGWPGAVQ
TCSPKNYENDLPRKTTPLISVSVPAPPVLCQMIPVTGQSSMLPAFLKPPPQLSVGTVRPILAQAAPAPQPVFVGPAVPQG
AVMLVLPQGALPPPAPCAANVMAAGNTKLLPLAPAPVFITSSQNCVPQVDFSRRRNYVCSFPGCRKTYFKSSHLKAHLRT
HTGEKPFNCSWDGCDKKFARSDELSRHRRTHTGEKKFVCPVCDRRFMRSDHLTKHARRHMTTKKIPGWQAEVGKLNRIAS
AESPGSPLVSMPASA*

Gene Symbol:KLF11
Accession:NM_003597
Location:EXON
Amino Acid Prediction: R to G (nonsynonymous)
Amino Acid Position: 120
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MHTPDFAGPDDARAVDIMDICESILERKRHDSERSTCSILEQTDMEAVEALVCMSSWGQRSQKGDLLRIRPLTPVSDSGD
VTTTVHMDAATPELPKDFHSLSTLCITPPQSPDLVEPSTGTPVSPQVTDSKACTATDVLQSSAVVARALSGGAERGLLGL
EPVPSSPCRAKGTSVIRHTGESPAACFPTIQTPDCRLSDSREGEEQLLGHFETLQDTHLTDSLLSTNLVSCQPCLHKSGG
LLLTDKGQQAGWPGAVQTCSPKNYENDLPRKTTPLISVSVPAPPVLCQMIPVTGQSSMLPAFLKPPPQLSVGTVRPILAQ
AAPAPQPVFVGPAVPQGAVMLVLPQGALPPPAPCAANVMAAGNTKLLPLAPAPVFITSSQNCVPQVDFSRRRNYVCSFPG
CRKTYFKSSHLKAHLRTHTGEKPFNCSWDGCDKKFARSDELSRHRRTHTGEKKFVCPVCDRRFMRSDHLTKHARRHMTTK
KIPGWQAEVGKLNRIASAESPGSPLVSMPASA*

Gene Symbol:KLF11
Accession:NM_001177718
Location:EXON
Amino Acid Prediction: R to G (nonsynonymous)
Amino Acid Position: 103
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDICESILERKRHDSERSTCSILEQTDMEAVEALVCMSSWGQRSQKGDLLRIRPLTPVSDSGDVTTTVHMDAATPELPKD
FHSLSTLCITPPQSPDLVEPSTGTPVSPQVTDSKACTATDVLQSSAVVARALSGGAERGLLGLEPVPSSPCRAKGTSVIR
HTGESPAACFPTIQTPDCRLSDSREGEEQLLGHFETLQDTHLTDSLLSTNLVSCQPCLHKSGGLLLTDKGQQAGWPGAVQ
TCSPKNYENDLPRKTTPLISVSVPAPPVLCQMIPVTGQSSMLPAFLKPPPQLSVGTVRPILAQAAPAPQPVFVGPAVPQG
AVMLVLPQGALPPPAPCAANVMAAGNTKLLPLAPAPVFITSSQNCVPQVDFSRRRNYVCSFPGCRKTYFKSSHLKAHLRT
HTGEKPFNCSWDGCDKKFARSDELSRHRRTHTGEKKFVCPVCDRRFMRSDHLTKHARRHMTTKKIPGWQAEVGKLNRIAS
AESPGSPLVSMPASA*

Gene Symbol:KLF11
Accession:NM_001177716
Location:EXON
Amino Acid Prediction: R to G (nonsynonymous)
Amino Acid Position: 103
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDICESILERKRHDSERSTCSILEQTDMEAVEALVCMSSWGQRSQKGDLLRIRPLTPVSDSGDVTTTVHMDAATPELPKD
FHSLSTLCITPPQSPDLVEPSTGTPVSPQVTDSKACTATDVLQSSAVVARALSGGAERGLLGLEPVPSSPCRAKGTSVIR
HTGESPAACFPTIQTPDCRLSDSREGEEQLLGHFETLQDTHLTDSLLSTNLVSCQPCLHKSGGLLLTDKGQQAGWPGAVQ
TCSPKNYENDLPRKTTPLISVSVPAPPVLCQMIPVTGQSSMLPAFLKPPPQLSVGTVRPILAQAAPAPQPVFVGPAVPQG
AVMLVLPQGALPPPAPCAANVMAAGNTKLLPLAPAPVFITSSQNCVPQVDFSRRRNYVCSFPGCRKTYFKSSHLKAHLRT
HTGEKPFNCSWDGCDKKFARSDELSRHRRTHTGEKKFVCPVCDRRFMRSDHLTKHARRHMTTKKIPGWQAEVGKLNRIAS
AESPGSPLVSMPASA*
Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000372911 CLINVAR
dbSNP (RS) rs201792575 CLINVAR
MedGen C1864839 CLINVAR
NCBI Gene KLF11 CLINVAR
OMIM 603301 CLINVAR
  610508 CLINVAR