RGD:28872467 Rat Genome Database

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Variant: RGD:28872467 -  Homo sapiens

RGD ID: 28872467
RS ID: rs13306391
ClinVar ID: CV898124
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GCK  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 7 44,228,636
GRCh38 7 44,189,037
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000162.3:c.-84C>G
NM_001354800.1:c.-84C>G
NG_008847.2:g.14134C>G
NC_000007.14:g.44189037G>C
More... 		06/26/2018 5 prime utr variant benign Diabetes mellitus MODY type 2; Diabetes mellitus, type II, autosomal dominant; Hyperinsulinemic hypoglycemia familial 3; Mason type diabetes; MODY glucokinase-related; MODY type 2; none provided; Permanent diabetes mellitus of infancy

Variant Details
Variant Transcripts
Gene Symbol:GCK
Accession:NM_000162
Location:5UTRS;EXON

Gene Symbol:GCK
Accession:NM_001354800
Location:5UTRS;EXON

Gene Symbol:GCK
Accession:NM_033507
Location:INTRON

Gene Symbol:GCK
Accession:XM_024446707
Location:INTRON

Gene Symbol:GCK
Accession:NM_001354803
Location:INTRON

Gene Symbol:GCK
Accession:NM_001354801
Location:INTRON

Gene Symbol:GCK
Accession:NM_001354802
Location:INTRON

Gene Symbol:GCK
Accession:NM_033508
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:27269892   PMID:29510678   PMID:30257192   PMID:31197960   PMID:32375122   PMID:33129248  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001159476 CLINVAR
  RCV001164415 CLINVAR
  RCV001164416 CLINVAR
  RCV001164417 CLINVAR
  RCV001683742 CLINVAR
  RCV002319664 CLINVAR
dbSNP (RS) rs13306391 CLINVAR
MedGen C0342276 CLINVAR
  C0342277 CLINVAR
  C1833104 CLINVAR
  C1865290 CLINVAR
  C3661900 CLINVAR
  CN239376 CLINVAR
NCBI Gene GCK CLINVAR
OMIM 125851 CLINVAR
  138079 CLINVAR
  602485 CLINVAR
  606176 CLINVAR
  606391 CLINVAR
SNOMED CT 28453007 CLINVAR