RGD:153000802 Rat Genome Database

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Variant: RGD:153000802 -  Homo sapiens

RGD ID: 153000802
RS ID: rs2128820056
ClinVar ID: CV1683842
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GCK  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 7 44,186,217
GRCh38 7 44,146,618
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1074t1:c.864G>C
LRG_1074t2:c.867G>C
NM_000162.5:c.864G>C
NM_001354800.1:c.864G>C
More... 		08/04/2022 splice donor variant uncertain significance AllHighlyPenetrant; none provided

Variant Details
Variant Transcripts
Gene Symbol:GCK
Accession:NM_000162
Location:INTRON

Gene Symbol:GCK
Accession:NM_033508
Location:INTRON

Gene Symbol:GCK
Accession:NM_001354801
Location:INTRON

Gene Symbol:GCK
Accession:NM_001354800
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

Gene Symbol:GCK
Accession:NM_001354802
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002254461 CLINVAR
  RCV003479415 CLINVAR
dbSNP (RS) rs2128820056 CLINVAR
MedGen C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene GCK CLINVAR
OMIM 138079 CLINVAR