RGD:12741918 Rat Genome Database

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Variant: RGD:12741918 -  Homo sapiens

RGD ID: 12741918
RS ID: rs1057518775
ClinVar ID: CV360928
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNJ11  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 11 17,409,454
GRCh38 11 17,387,907
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000525.3:c.185C>G
NG_012446.1:g.5753C>G
NC_000011.10:g.17387907G>C
NC_000011.9:g.17409454G>C
More... 		07/18/2016 intron variant likely pathogenic Hyperinsulinemia; Hyperinsulinism; Hypertrichosis; Hypoglycemia
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_001166290
Location:5UTRS;INTRON

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

Gene Symbol:KCNJ11
Accession:NM_001377296
Location:5UTRS;INTRON

Gene Symbol:KCNJ11
Accession:NM_000525
Location:EXON
Amino Acid Prediction: T to R (nonsynonymous)
Amino Acid Position: 62
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLSRKGIIPEEYVLTRLAEDPAKPRYRARQRRARFVSKKGNCNVAHKNIREQGRFLQDVFTRLVDLKWPHTLLIFTMSFL
CSWLLFAMAWWLIAFAHGDLAPSEGTAEPCVTSIHSFSSAFLFSIEVQVTIGFGGRMVTEECPLAILILIVQNIVGLMIN
AIMLGCIFMKTAQAHRRAETLIFSKHAVIALRHGRLCFMLRVGDLRKSMIISATIHMQVVRKTTSPEGEVVPLHQVDIPM
ENGVGGNSIFLVAPLIIYHVIDANSPLYDLAPSDLHHHQDLEIIVILEGVVETTGITTQARTSYLADEILWGQRFVPIVA
EEDGRYSVDYSKFGNTVKVPTPLCTARQLDEDHSLLEALTLASARGPLRKRSVPMAKAKPKFSISPDSLS*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000415398 CLINVAR
dbSNP (RS) rs1057518775 CLINVAR
MedGen C0011615 CLINVAR
NCBI Gene KCNJ11 CLINVAR
OMIM 600937 CLINVAR
SNOMED CT 29966009 CLINVAR