RGD:11647499 Rat Genome Database

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Variant: RGD:11647499 -  Homo sapiens

RGD ID: 11647499
RS ID: rs886062344
ClinVar ID: CV311170
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GCK  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 7 44,183,891
GRCh38 7 44,144,292
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Prevalence Trait Synonyms
NC_000007.14:g.44144292T>G
NC_000007.13:g.44183891T>G
NG_008847.2:g.58879A>C
NM_001354803.2:c.*844A>C
More... 		06/14/2016 3 prime utr variant benign|uncertain significance the estimated incidence of permanent neonatal diabetes ranges from 1:215,000 to 1:260,000 live births Diabetes mellitus MODY type 2; Diabetes mellitus, type II, autosomal dominant; Hyperinsulinemic hypoglycemia familial 3; Mason type diabetes; MODY glucokinase-related; MODY type 2; Permanent diabetes mellitus of infancy

Variant Details
Variant Transcripts
Gene Symbol:GCK
Accession:NM_033507
Location:3UTRS;EXON

Gene Symbol:GCK
Accession:NM_000162
Location:3UTRS;EXON

Gene Symbol:GCK
Accession:NM_033508
Location:3UTRS;EXON

Gene Symbol:GCK
Accession:NM_001354803
Location:3UTRS;EXON

Gene Symbol:GCK
Accession:NM_001354801
Location:3UTRS;EXON

Gene Symbol:GCK
Accession:XM_024446707
Location:3UTRS;EXON

Gene Symbol:GCK
Accession:NM_001354800
Location:INTRON

Gene Symbol:GCK
Accession:NM_001354802
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 RCV000276649 CLINVAR
  RCV000327045 CLINVAR
  RCV000330528 CLINVAR
  RCV000371132 CLINVAR
  RCV002319484 CLINVAR
dbSNP (RS) rs886062344 CLINVAR
MedGen C0342276 CLINVAR
  C0342277 CLINVAR
  C1833104 CLINVAR
  C1865290 CLINVAR
  CN239376 CLINVAR
NCBI Gene GCK CLINVAR
OMIM 125851 CLINVAR
  138079 CLINVAR
  602485 CLINVAR
  606176 CLINVAR
  606391 CLINVAR
SNOMED CT 28453007 CLINVAR