RGD:13216588 Rat Genome Database

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Variant: RGD:13216588 -  Homo sapiens

RGD ID: 13216588
RS ID: rs781377703
ClinVar ID: CV428735
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GCK  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 7 44,228,654
GRCh38 7 44,189,055
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.-102G>A
NG_008847.2:g.14116G>A
NC_000007.14:g.44189055C>T
NC_000007.13:g.44228654C>T
More... 		01/13/2018 5 prime utr variant benign|uncertain significance AllHighlyPenetrant; 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_001354800
Location:5UTRS;EXON

Gene Symbol:GCK
Accession:NM_000162
Location:5UTRS;EXON

Gene Symbol:GCK
Accession:NM_001354802
Location:INTRON

Gene Symbol:GCK
Accession:NM_001354801
Location:INTRON

Gene Symbol:GCK
Accession:NM_001354803
Location:INTRON

Gene Symbol:GCK
Accession:XM_024446707
Location:INTRON

Gene Symbol:GCK
Accession:NM_033507
Location:INTRON

Gene Symbol:GCK
Accession:NM_033508
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:27269892   PMID:29510678   PMID:30257192   PMID:31197960   PMID:32375122   PMID:33129248  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000503948 CLINVAR
  RCV001159481 CLINVAR
  RCV001159482 CLINVAR
  RCV001159483 CLINVAR
  RCV001160841 CLINVAR
  RCV002463686 CLINVAR
dbSNP (RS) rs781377703 CLINVAR
MedGen C0342276 CLINVAR
  C0342277 CLINVAR
  C1833104 CLINVAR
  C1865290 CLINVAR
  CN169374 CLINVAR
  CN239376 CLINVAR
NCBI Gene GCK CLINVAR
OMIM 125851 CLINVAR
  138079 CLINVAR
  602485 CLINVAR
  606176 CLINVAR
  606391 CLINVAR
SNOMED CT 28453007 CLINVAR