RGD:13213671 Rat Genome Database

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Variant: RGD:13213671 -  Homo sapiens

RGD ID: 13213671
RS ID: rs1057518775
ClinVar ID: CV429190
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNJ11  
Reference Nucleotide: G
Variant Nucleotide: A
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_001377297.1:c.-16-61C>T
NG_012446.1:g.5753C>T
NC_000011.10:g.17387907G>A
NM_000525.4:c.185C>T
More... 		04/17/2023 intron variant likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance AllHighlyPenetrant; Mason type diabetes; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:KCNJ11
Accession:NM_001166290
Location:5UTRS;INTRON

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

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

Gene Symbol:KCNJ11
Accession:NM_000525
Location:EXON
Amino Acid Prediction: T to M (nonsynonymous)
Amino Acid Position: 62
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLSRKGIIPEEYVLTRLAEDPAKPRYRARQRRARFVSKKGNCNVAHKNIREQGRFLQDVFTMLVDLKWPHTLLIFTMSFL
CSWLLFAMAWWLIAFAHGDLAPSEGTAEPCVTSIHSFSSAFLFSIEVQVTIGFGGRMVTEECPLAILILIVQNIVGLMIN
AIMLGCIFMKTAQAHRRAETLIFSKHAVIALRHGRLCFMLRVGDLRKSMIISATIHMQVVRKTTSPEGEVVPLHQVDIPM
ENGVGGNSIFLVAPLIIYHVIDANSPLYDLAPSDLHHHQDLEIIVILEGVVETTGITTQARTSYLADEILWGQRFVPIVA
EEDGRYSVDYSKFGNTVKVPTPLCTARQLDEDHSLLEALTLASARGPLRKRSVPMAKAKPKFSISPDSLS*
Variant Samples
Additional References at PubMed
PMID:15580558   PMID:15718250   PMID:22701567   PMID:23275527   PMID:24401662   PMID:25201519   PMID:25741868   PMID:26448950   PMID:28492532   PMID:32935446  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000500297 CLINVAR
  RCV002227172 CLINVAR
  RCV002461253 CLINVAR
dbSNP (RS) rs1057518775 CLINVAR
MedGen C0342276 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene KCNJ11 CLINVAR
OMIM 600937 CLINVAR
  606391 CLINVAR
SNOMED CT 28453007 CLINVAR