RGD:11665846 Rat Genome Database

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Variant: RGD:11665846 -  Homo sapiens

RGD ID: 11665846
RS ID: rs539975714
ClinVar ID: CV325626
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNJ11  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 17,409,792
GRCh38 11 17,388,245
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Prevalence Trait Synonyms
NG_012446.1:g.5415G>T
NC_000011.10:g.17388245C>A
NC_000011.9:g.17409792C>A
NM_000525.4:c.-154G>T
More... 		01/12/2018 5 prime utr variant benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance the estimated incidence of permanent neonatal diabetes ranges from 1:215,000 to 1:260,000 live births HYPERINSULINEMIC HYPOGLYCEMIA, PERSISTENT; HYPERINSULINISM, NEONATAL; Mason type diabetes; MODY, TYPE 13; Permanent diabetes mellitus of infancy

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

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

Gene Symbol:KCNJ11
Accession:NM_001166290
Location:5UTRS;INTRON

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000297419 CLINVAR
  RCV000311097 CLINVAR
  RCV000335735 CLINVAR
  RCV000351890 CLINVAR
  RCV001094070 CLINVAR
  RCV001094071 CLINVAR
  RCV001108897 CLINVAR
dbSNP (RS) rs539975714 CLINVAR
MedGen C0342276 CLINVAR
  C1833104 CLINVAR
  C1864623 CLINVAR
  C2931833 CLINVAR
  C4225365 CLINVAR
  CN239283 CLINVAR
  CN239464 CLINVAR
NCBI Gene ABCC8 CLINVAR
  KCNJ11 CLINVAR
OMIM 600509 CLINVAR
  600937 CLINVAR
  601820 CLINVAR
  606176 CLINVAR
  606391 CLINVAR
  610582 CLINVAR
  616329 CLINVAR
SNOMED CT 28453007 CLINVAR