RGD:156154723 Rat Genome Database

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Variant: RGD:156154723 -  Homo sapiens

RGD ID: 156154723
ClinVar ID: CV2314237
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KLF11  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 10,187,814
GRCh38 2 10,047,687
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001177716.2:c.299C>T
NM_001177718.2:c.299C>T
NM_003597.5:c.350C>T
NG_017199.1:g.9133C>T
More...
10/27/2022 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:KLF11
Accession:NM_001177716
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 100
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDICESILERKRHDSERSTCSILEQTDMEAVEALVCMSSWGQRSQKGDLLRIRPLTPVSDSGDVTTTVHMDAATPELPKD
FHSLSTLCITPPQSPDLVELSTRTPVSPQVTDSKACTATDVLQSSAVVARALSGGAERGLLGLEPVPSSPCRAKGTSVIR
HTGESPAACFPTIQTPDCRLSDSREGEEQLLGHFETLQDTHLTDSLLSTNLVSCQPCLHKSGGLLLTDKGQQAGWPGAVQ
TCSPKNYENDLPRKTTPLISVSVPAPPVLCQMIPVTGQSSMLPAFLKPPPQLSVGTVRPILAQAAPAPQPVFVGPAVPQG
AVMLVLPQGALPPPAPCAANVMAAGNTKLLPLAPAPVFITSSQNCVPQVDFSRRRNYVCSFPGCRKTYFKSSHLKAHLRT
HTGEKPFNCSWDGCDKKFARSDELSRHRRTHTGEKKFVCPVCDRRFMRSDHLTKHARRHMTTKKIPGWQAEVGKLNRIAS
AESPGSPLVSMPASA*

Gene Symbol:KLF11
Accession:XM_047446025
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 100
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDICESILERKRHDSERSTCSILEQTDMEAVEALVCMSSWGQRSQKGDLLRIRPLTPVSDSGDVTTTVHMDAATPELPKD
FHSLSTLCITPPQSPDLVELSTRTPVSPQVTDSKACTATDVLQSSAVVARALSGGAERGLLGLEPVPSSPCRAKGTSVIR
HTGESPAACFPTIQTPDCRLSDSREGEEQLLGHFETLQDTHLTDSLLSTNLVSCQPCLHKSGGLLLTDKGQQAGWPGAVQ
TCSPKNYENDLPRKTTPLISVSVPAPPVLCQMIPVTGQSSMLPAFLKPPPQLSVGTVRPILAQAAPAPQPVFVGPAVPQG
AVMLVLPQGALPPPAPCAANVMAAGNTKLLPLAPAPVFITSSQNCVPQVDFSRRRNYVCSFPGCRKTYFKSSHLKAHLRT
HTGEKPFNCSWDGCDKKFARSDELSRHRRTHTGEKKFVCPVCDRRFMRSDHLTKHARRHMTTKKIPGWQAEVGKLNRIAS
AESPGSPLVSMPASA*

Gene Symbol:KLF11
Accession:NM_003597
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 117
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MHTPDFAGPDDARAVDIMDICESILERKRHDSERSTCSILEQTDMEAVEALVCMSSWGQRSQKGDLLRIRPLTPVSDSGD
VTTTVHMDAATPELPKDFHSLSTLCITPPQSPDLVELSTRTPVSPQVTDSKACTATDVLQSSAVVARALSGGAERGLLGL
EPVPSSPCRAKGTSVIRHTGESPAACFPTIQTPDCRLSDSREGEEQLLGHFETLQDTHLTDSLLSTNLVSCQPCLHKSGG
LLLTDKGQQAGWPGAVQTCSPKNYENDLPRKTTPLISVSVPAPPVLCQMIPVTGQSSMLPAFLKPPPQLSVGTVRPILAQ
AAPAPQPVFVGPAVPQGAVMLVLPQGALPPPAPCAANVMAAGNTKLLPLAPAPVFITSSQNCVPQVDFSRRRNYVCSFPG
CRKTYFKSSHLKAHLRTHTGEKPFNCSWDGCDKKFARSDELSRHRRTHTGEKKFVCPVCDRRFMRSDHLTKHARRHMTTK
KIPGWQAEVGKLNRIASAESPGSPLVSMPASA*

Gene Symbol:KLF11
Accession:NM_001177718
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 100
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDICESILERKRHDSERSTCSILEQTDMEAVEALVCMSSWGQRSQKGDLLRIRPLTPVSDSGDVTTTVHMDAATPELPKD
FHSLSTLCITPPQSPDLVELSTRTPVSPQVTDSKACTATDVLQSSAVVARALSGGAERGLLGLEPVPSSPCRAKGTSVIR
HTGESPAACFPTIQTPDCRLSDSREGEEQLLGHFETLQDTHLTDSLLSTNLVSCQPCLHKSGGLLLTDKGQQAGWPGAVQ
TCSPKNYENDLPRKTTPLISVSVPAPPVLCQMIPVTGQSSMLPAFLKPPPQLSVGTVRPILAQAAPAPQPVFVGPAVPQG
AVMLVLPQGALPPPAPCAANVMAAGNTKLLPLAPAPVFITSSQNCVPQVDFSRRRNYVCSFPGCRKTYFKSSHLKAHLRT
HTGEKPFNCSWDGCDKKFARSDELSRHRRTHTGEKKFVCPVCDRRFMRSDHLTKHARRHMTTKKIPGWQAEVGKLNRIAS
AESPGSPLVSMPASA*

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002915601 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene KLF11 CLINVAR
OMIM 603301 CLINVAR