RGD:8569487 Rat Genome Database

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Variant: RGD:8569487 -  Homo sapiens

RGD ID: 8569487
RS ID: rs193922298
ClinVar ID: CV44883
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GCK  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 7 44,228,497
GRCh38 7 44,188,898
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000007.14:g.44188898G>C
NC_000007.13:g.44228497G>C
NG_008847.2:g.14273C>G
NM_000162.3:c.45+11C>G
More... 		08/18/2011 intron|intron variant benign|uncertain significance Mason type diabetes
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GCK
Accession:NM_001354803
Location:INTRON

Gene Symbol:GCK
Accession:NM_033507
Location:INTRON

Gene Symbol:GCK
Accession:NM_033508
Location:INTRON

Gene Symbol:GCK
Accession:XM_024446707
Location:INTRON

Gene Symbol:GCK
Accession:NM_000162
Location:INTRON

Gene Symbol:GCK
Accession:NM_001354802
Location:INTRON

Gene Symbol:GCK
Accession:NM_001354801
Location:INTRON

Gene Symbol:GCK
Accession:NM_001354800
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 RCV000029882 CLINVAR
  RCV002463597 CLINVAR
dbSNP (RS) rs193922298 CLINVAR
MedGen C0158981 CLINVAR
  C0342276 CLINVAR
NCBI Gene GCK CLINVAR
OMIM 138079 CLINVAR
  606391 CLINVAR
SNOMED CT 28453007 CLINVAR
  49817004 CLINVAR