RGD:11600703 Rat Genome Database

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Variant: RGD:11600703 -  Homo sapiens

RGD ID: 11600703
RS ID: rs5213
ClinVar ID: CV319487
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNJ11  LOC127820554  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 17,408,404
GRCh38 11 17,386,857
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.6803G>A
NC_000011.10:g.17386857C>T
NC_000011.9:g.17408404C>T
NM_001166290.2:c.*62G>A
More... 		01/13/2018 3 prime utr variant benign|likely benign|uncertain significance HYPERINSULINEMIC HYPOGLYCEMIA, PERSISTENT; HYPERINSULINISM, NEONATAL; Mason type diabetes; MODY, TYPE 13

Variant Details
Variant Transcripts
Gene Symbol:KCNJ11
Accession:NM_001166290
Location:3UTRS;EXON

Gene Symbol:KCNJ11
Accession:NM_000525
Location:3UTRS;EXON

Gene Symbol:KCNJ11
Accession:NM_001377296
Location:3UTRS;EXON

Gene Symbol:KCNJ11
Accession:NM_001377297
Location:3UTRS;EXON

Variant Samples
Additional References at PubMed
PMID:30297969   PMID:34737607  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000275742 CLINVAR
  RCV000324987 CLINVAR
  RCV000370291 CLINVAR
  RCV002227141 CLINVAR
dbSNP (RS) rs5213 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