RGD:11647055 Rat Genome Database

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Variant: RGD:11647055 -  Homo sapiens

RGD ID: 11647055
RS ID: rs886048044
ClinVar ID: CV313387
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNJ11  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 17,410,153
GRCh38 11 17,388,606
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001166290.2:c.-17+568G>A
NG_012446.1:g.5054G>A
NC_000011.10:g.17388606C>T
NC_000011.9:g.17410153C>T
More... 		01/13/2018 5 prime utr variant uncertain significance HYPERINSULINEMIC HYPOGLYCEMIA, PERSISTENT; HYPERINSULINISM, NEONATAL; Mason type diabetes; MODY, TYPE 13

Variant Details
Variant Transcripts
Gene Symbol:KCNJ11
Accession:NM_000525
Location:5UTRS;EXON

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

Variant Samples
Additional References at PubMed
PMID:15580558   PMID:15718250   PMID:22701567   PMID:26448950   PMID:32935446  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000274150 CLINVAR
  RCV000332685 CLINVAR
  RCV000389519 CLINVAR
  RCV002227148 CLINVAR
dbSNP (RS) rs886048044 CLINVAR
MedGen C0342276 CLINVAR
  C1864623 CLINVAR
  C2931833 CLINVAR
  C4225365 CLINVAR
NCBI Gene KCNJ11 CLINVAR
OMIM 600937 CLINVAR
  601820 CLINVAR
  606391 CLINVAR
  610582 CLINVAR
  616329 CLINVAR
SNOMED CT 28453007 CLINVAR