RGD:28907356 Rat Genome Database

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Variant: RGD:28907356 -  Homo sapiens

RGD ID: 28907356
RS ID: rs781377703
ClinVar ID: CV898125
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GCK  
Reference Nucleotide: C
Variant Nucleotide: G
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_000162.5:c.-102G>C
NM_001354800.1:c.-102G>C
NG_008847.2:g.14116G>C
NC_000007.14:g.44189055C>G
More...
01/13/2018 5 prime utr variant uncertain significance Diabetes mellitus MODY type 2; Diabetes mellitus, type II, autosomal dominant; Hyperinsulinemic hypoglycemia familial 3; MODY glucokinase-related; MODY type 2; 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:NM_033508
Location:INTRON

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001159477 CLINVAR
  RCV001159478 CLINVAR
  RCV001159479 CLINVAR
  RCV001159480 CLINVAR
dbSNP (RS) rs781377703 CLINVAR
MedGen C0342277 CLINVAR
  C1833104 CLINVAR
  C1865290 CLINVAR
  CN239376 CLINVAR
NCBI Gene GCK CLINVAR
OMIM 125851 CLINVAR
  138079 CLINVAR
  602485 CLINVAR
  606176 CLINVAR