RGD:152057120 Rat Genome Database

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Variant: RGD:152057120 -  Homo sapiens

RGD ID: 152057120
RS ID: rs13306393
ClinVar ID: CV1670544
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GCK  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 7 44,198,660
GRCh38 7 44,159,061
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1074t1:c.46-5598A>T
LRG_1074t2:c.48+12A>T
NM_033508.3:c.-83+12A>T
NM_000162.5:c.46-5598A>T
More... 		08/31/2023 intron variant benign|likely benign Diabetes mellitus MODY type 2; Diabetes mellitus, noninsulin-dependent, late onset; DIABETES MELLITUS, TYPE 2, PROTECTION AGAINST; Diabetes mellitus, type II, autosomal dominant; Hyperinsulinemic hypoglycemia familial 3; Hyperinsulinism due to glucokinase deficiency; Maturity-onset diabetes of the young type 2; MODY glucokinase-related; MODY type 2; none provided; Permanent neonatal diabetes mellitus 1; Type II diabetes mellitus
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:GCK
Accession:NM_033508
Location:5UTRS;INTRON

Gene Symbol:GCK
Accession:NM_000162
Location:INTRON

Gene Symbol:GCK
Accession:NM_001354802
Location:INTRON

Gene Symbol:GCK
Accession:NM_001354800
Location:INTRON

Gene Symbol:GCK
Accession:NM_001354801
Location:INTRON

Gene Symbol:GCK
Accession:NM_033507
Location:INTRON

Gene Symbol:GCK
Accession:XM_024446707
Location:INTRON

Gene Symbol:GCK
Accession:NM_001354803
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002226064 CLINVAR
  RCV002505887 CLINVAR
dbSNP (RS) rs13306393 CLINVAR
MedGen C0011860 CLINVAR
  C3661900 CLINVAR
NCBI Gene GCK CLINVAR
OMIM 125851 CLINVAR
  125853 CLINVAR
  138079 CLINVAR
  602485 CLINVAR
  606176 CLINVAR
SNOMED CT 44054006 CLINVAR