RGD:13791669 Rat Genome Database

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Variant: RGD:13791669 -  Homo sapiens

RGD ID: 13791669
RS ID: rs750778014
ClinVar ID: CV546188
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNJ11  LOC127820555  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 17,409,064
GRCh38 11 17,387,517
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_001364225.1:p.Arg105His
NP_001364226.1:p.Arg105His
NP_000516.3:p.Arg192His
NG_012446.1:g.6143G>A
More... 		06/13/2017 missense variant benign|uncertain significance Diabetes mellitus, noninsulin-dependent, late onset; Diabetes mellitus, permanent neonatal 2; Diabetes mellitus, transient neonatal, 3; DIABETES MELLITUS, TYPE 2, PROTECTION AGAINST; Hyperinsulinemic hypoglycemia, familial, 2; HYPERINSULINEMIC HYPOGLYCEMIA, PERSISTENT; HYPERINSULINISM, NEONATAL; Mason type diabetes; Maturity-onset diabetes of the young type 13; MODY, TYPE 13; Permanent diabetes mellitus of infancy; Type 2 diabetes mellitus; Type II diabetes mellitus
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:KCNJ11
Accession:NM_000525
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 192
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLSRKGIIPEEYVLTRLAEDPAKPRYRARQRRARFVSKKGNCNVAHKNIREQGRFLQDVFTTLVDLKWPHTLLIFTMSFL
CSWLLFAMAWWLIAFAHGDLAPSEGTAEPCVTSIHSFSSAFLFSIEVQVTIGFGGRMVTEECPLAILILIVQNIVGLMIN
AIMLGCIFMKTAQAHRRAETLIFSKHAVIALHHGRLCFMLRVGDLRKSMIISATIHMQVVRKTTSPEGEVVPLHQVDIPM
ENGVGGNSIFLVAPLIIYHVIDANSPLYDLAPSDLHHHQDLEIIVILEGVVETTGITTQARTSYLADEILWGQRFVPIVA
EEDGRYSVDYSKFGNTVKVPTPLCTARQLDEDHSLLEALTLASARGPLRKRSVPMAKAKPKFSISPDSLS*

Gene Symbol:KCNJ11
Accession:NM_001166290
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 105
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAWWLIAFAHGDLAPSEGTAEPCVTSIHSFSSAFLFSIEVQVTIGFGGRMVTEECPLAILILIVQNIVGLMINAIMLGCI
FMKTAQAHRRAETLIFSKHAVIALHHGRLCFMLRVGDLRKSMIISATIHMQVVRKTTSPEGEVVPLHQVDIPMENGVGGN
SIFLVAPLIIYHVIDANSPLYDLAPSDLHHHQDLEIIVILEGVVETTGITTQARTSYLADEILWGQRFVPIVAEEDGRYS
VDYSKFGNTVKVPTPLCTARQLDEDHSLLEALTLASARGPLRKRSVPMAKAKPKFSISPDSLS*

Gene Symbol:KCNJ11
Accession:NM_001377296
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 105
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAWWLIAFAHGDLAPSEGTAEPCVTSIHSFSSAFLFSIEVQVTIGFGGRMVTEECPLAILILIVQNIVGLMINAIMLGCI
FMKTAQAHRRAETLIFSKHAVIALHHGRLCFMLRVGDLRKSMIISATIHMQVVRKTTSPEGEVVPLHQVDIPMENGVGGN
SIFLVAPLIIYHVIDANSPLYDLAPSDLHHHQDLEIIVILEGVVETTGITTQARTSYLADEILWGQRFVPIVAEEDGRYS
VDYSKFGNTVKVPTPLCTARQLDEDHSLLEALTLASARGPLRKRSVPMAKAKPKFSISPDSLS*

Gene Symbol:KCNJ11
Accession:NM_001377297
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 105
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAWWLIAFAHGDLAPSEGTAEPCVTSIHSFSSAFLFSIEVQVTIGFGGRMVTEECPLAILILIVQNIVGLMINAIMLGCI
FMKTAQAHRRAETLIFSKHAVIALHHGRLCFMLRVGDLRKSMIISATIHMQVVRKTTSPEGEVVPLHQVDIPMENGVGGN
SIFLVAPLIIYHVIDANSPLYDLAPSDLHHHQDLEIIVILEGVVETTGITTQARTSYLADEILWGQRFVPIVAEEDGRYS
VDYSKFGNTVKVPTPLCTARQLDEDHSLLEALTLASARGPLRKRSVPMAKAKPKFSISPDSLS*
Variant Samples
Additional References at PubMed
PMID:24018988   PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000667748 CLINVAR
  RCV002271555 CLINVAR
  RCV002493095 CLINVAR
dbSNP (RS) rs750778014 CLINVAR
MedGen C0342276 CLINVAR
  C1833104 CLINVAR
  C1864623 CLINVAR
NCBI Gene KCNJ11 CLINVAR
OMIM 125853 CLINVAR
  600937 CLINVAR
  601820 CLINVAR
  606176 CLINVAR
  606391 CLINVAR
  610582 CLINVAR
  616329 CLINVAR
  618856 CLINVAR
SNOMED CT 28453007 CLINVAR
  44054006 CLINVAR