RGD:28877457 Rat Genome Database

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Variant: RGD:28877457 -  Homo sapiens

RGD ID: 28877457
RS ID: rs1377863567
ClinVar ID: CV880758
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KLF11  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 10,183,868
GRCh38 2 10,043,741
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_003597.5:c.25C>T
NG_017199.1:g.5187C>T
NC_000002.12:g.10043741C>T
NC_000002.11:g.10183868C>T
More... 		04/27/2017 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:NM_003597
Location:EXON
Amino Acid Prediction: P to S (nonsynonymous)
Amino Acid Position: 9
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MHTPDFAGSDDARAVDIMDICESILERKRHDSERSTCSILEQTDMEAVEALVCMSSWGQRSQKGDLLRIRPLTPVSDSGD
VTTTVHMDAATPELPKDFHSLSTLCITPPQSPDLVEPSTRTPVSPQVTDSKACTATDVLQSSAVVARALSGGAERGLLGL
EPVPSSPCRAKGTSVIRHTGESPAACFPTIQTPDCRLSDSREGEEQLLGHFETLQDTHLTDSLLSTNLVSCQPCLHKSGG
LLLTDKGQQAGWPGAVQTCSPKNYENDLPRKTTPLISVSVPAPPVLCQMIPVTGQSSMLPAFLKPPPQLSVGTVRPILAQ
AAPAPQPVFVGPAVPQGAVMLVLPQGALPPPAPCAANVMAAGNTKLLPLAPAPVFITSSQNCVPQVDFSRRRNYVCSFPG
CRKTYFKSSHLKAHLRTHTGEKPFNCSWDGCDKKFARSDELSRHRRTHTGEKKFVCPVCDRRFMRSDHLTKHARRHMTTK
KIPGWQAEVGKLNRIASAESPGSPLVSMPASA*

Gene Symbol:KLF11
Accession:NM_001177716
Location:INTRON

Gene Symbol:KLF11
Accession:NM_001177718
Location:INTRON

Gene Symbol:KLF11
Accession:XM_047446025
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001134794 CLINVAR
dbSNP (RS) rs1377863567 CLINVAR
MedGen C1864839 CLINVAR
NCBI Gene KLF11 CLINVAR
OMIM 603301 CLINVAR
  610508 CLINVAR