RGD:8569575 Rat Genome Database

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Variant: RGD:8569575 -  Homo sapiens

RGD ID: 8569575
RS ID: rs193922565
ClinVar ID: CV45096
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNJ11  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 11 17,409,634
GRCh38 11 17,388,087
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_012446.1:g.5573T>C
NC_000011.10:g.17388087A>G
NC_000011.9:g.17409634A>G
NP_000516.3:p.Leu2Pro
More... 		08/18/2011 intron|intron variant|missense|missense variant likely pathogenic|uncertain significance Mason type diabetes
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:KCNJ11
Accession:NM_001377296
Location:5UTRS;INTRON

Gene Symbol:KCNJ11
Accession:NM_001377297
Location:5UTRS;INTRON

Gene Symbol:KCNJ11
Accession:NM_001166290
Location:5UTRS;INTRON

Gene Symbol:KCNJ11
Accession:NM_000525
Location:EXON
Amino Acid Prediction: L to P (nonsynonymous)
Amino Acid Position: 2
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPSRKGIIPEEYVLTRLAEDPAKPRYRARQRRARFVSKKGNCNVAHKNIREQGRFLQDVFTTLVDLKWPHTLLIFTMSFL
CSWLLFAMAWWLIAFAHGDLAPSEGTAEPCVTSIHSFSSAFLFSIEVQVTIGFGGRMVTEECPLAILILIVQNIVGLMIN
AIMLGCIFMKTAQAHRRAETLIFSKHAVIALRHGRLCFMLRVGDLRKSMIISATIHMQVVRKTTSPEGEVVPLHQVDIPM
ENGVGGNSIFLVAPLIIYHVIDANSPLYDLAPSDLHHHQDLEIIVILEGVVETTGITTQARTSYLADEILWGQRFVPIVA
EEDGRYSVDYSKFGNTVKVPTPLCTARQLDEDHSLLEALTLASARGPLRKRSVPMAKAKPKFSISPDSLS*
Variant Samples
Additional References at PubMed
PMID:15580558   PMID:15718250   PMID:26448950  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000030105 CLINVAR
  RCV002226660 CLINVAR
dbSNP (RS) rs193922565 CLINVAR
MedGen C0158981 CLINVAR
  C0342276 CLINVAR
NCBI Gene KCNJ11 CLINVAR
OMIM 600937 CLINVAR
  606391 CLINVAR
SNOMED CT 28453007 CLINVAR
  49817004 CLINVAR