RGD:11643564 Rat Genome Database

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Variant: RGD:11643564 -  Homo sapiens

RGD ID: 11643564
RS ID: rs758749160
ClinVar ID: CV272064
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNJ11  LOC127820554  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 17,408,546
GRCh38 11 17,386,999
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.6661C>T
NC_000011.10:g.17386999G>A
NC_000011.9:g.17408546G>A
NP_000516.3:p.Arg365Cys
More... 		01/11/2017 missense variant uncertain significance Diabetes mellitus, transient neonatal, 3; Hyperinsulinemic hypoglycemia, familial, 2; HYPERINSULINEMIC HYPOGLYCEMIA, PERSISTENT; HYPERINSULINISM, NEONATAL; Mason type diabetes; none provided; Permanent diabetes mellitus of infancy
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:KCNJ11
Accession:NM_000525
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 365
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLSRKGIIPEEYVLTRLAEDPAKPRYRARQRRARFVSKKGNCNVAHKNIREQGRFLQDVFTTLVDLKWPHTLLIFTMSFL
CSWLLFAMAWWLIAFAHGDLAPSEGTAEPCVTSIHSFSSAFLFSIEVQVTIGFGGRMVTEECPLAILILIVQNIVGLMIN
AIMLGCIFMKTAQAHRRAETLIFSKHAVIALRHGRLCFMLRVGDLRKSMIISATIHMQVVRKTTSPEGEVVPLHQVDIPM
ENGVGGNSIFLVAPLIIYHVIDANSPLYDLAPSDLHHHQDLEIIVILEGVVETTGITTQARTSYLADEILWGQRFVPIVA
EEDGRYSVDYSKFGNTVKVPTPLCTARQLDEDHSLLEALTLASACGPLRKRSVPMAKAKPKFSISPDSLS*

Gene Symbol:KCNJ11
Accession:NM_001377296
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 278
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAWWLIAFAHGDLAPSEGTAEPCVTSIHSFSSAFLFSIEVQVTIGFGGRMVTEECPLAILILIVQNIVGLMINAIMLGCI
FMKTAQAHRRAETLIFSKHAVIALRHGRLCFMLRVGDLRKSMIISATIHMQVVRKTTSPEGEVVPLHQVDIPMENGVGGN
SIFLVAPLIIYHVIDANSPLYDLAPSDLHHHQDLEIIVILEGVVETTGITTQARTSYLADEILWGQRFVPIVAEEDGRYS
VDYSKFGNTVKVPTPLCTARQLDEDHSLLEALTLASACGPLRKRSVPMAKAKPKFSISPDSLS*

Gene Symbol:KCNJ11
Accession:NM_001166290
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 278
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAWWLIAFAHGDLAPSEGTAEPCVTSIHSFSSAFLFSIEVQVTIGFGGRMVTEECPLAILILIVQNIVGLMINAIMLGCI
FMKTAQAHRRAETLIFSKHAVIALRHGRLCFMLRVGDLRKSMIISATIHMQVVRKTTSPEGEVVPLHQVDIPMENGVGGN
SIFLVAPLIIYHVIDANSPLYDLAPSDLHHHQDLEIIVILEGVVETTGITTQARTSYLADEILWGQRFVPIVAEEDGRYS
VDYSKFGNTVKVPTPLCTARQLDEDHSLLEALTLASACGPLRKRSVPMAKAKPKFSISPDSLS*

Gene Symbol:KCNJ11
Accession:NM_001377297
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 278
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAWWLIAFAHGDLAPSEGTAEPCVTSIHSFSSAFLFSIEVQVTIGFGGRMVTEECPLAILILIVQNIVGLMINAIMLGCI
FMKTAQAHRRAETLIFSKHAVIALRHGRLCFMLRVGDLRKSMIISATIHMQVVRKTTSPEGEVVPLHQVDIPMENGVGGN
SIFLVAPLIIYHVIDANSPLYDLAPSDLHHHQDLEIIVILEGVVETTGITTQARTSYLADEILWGQRFVPIVAEEDGRYS
VDYSKFGNTVKVPTPLCTARQLDEDHSLLEALTLASACGPLRKRSVPMAKAKPKFSISPDSLS*
Variant Samples
Additional References at PubMed
PMID:15580558   PMID:15718250   PMID:22701567   PMID:23275527   PMID:26448950   PMID:32935446  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000396277 CLINVAR
  RCV000665094 CLINVAR
  RCV002226703 CLINVAR
dbSNP (RS) rs758749160 CLINVAR
MedGen C0342276 CLINVAR
  C1833104 CLINVAR
  CN517202 CLINVAR
NCBI Gene KCNJ11 CLINVAR
OMIM 600937 CLINVAR
  601820 CLINVAR
  606176 CLINVAR
  606391 CLINVAR
  610582 CLINVAR
SNOMED CT 28453007 CLINVAR