RGD:13809642 Rat Genome Database

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Variant: RGD:13809642 -  Homo sapiens

RGD ID: 13809642
RS ID: rs1554335616
ClinVar ID: CV576993
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GCK  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 7 44,190,674
GRCh38 7 44,151,075
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008847.2:g.52096C>G
NC_000007.14:g.44151075G>C
NC_000007.13:g.44190674G>C
NM_000162.3:c.364C>G
More... 		04/06/2020 missense variant conflicting interpretations of pathogenicity|uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:GCK
Accession:NM_001354802
Location:INTRON

Gene Symbol:GCK
Accession:NM_001354803
Location:INTRON

Gene Symbol:GCK
Accession:NM_000162
Location:INTRON

Gene Symbol:GCK
Accession:NM_001354800
Location:INTRON

Gene Symbol:GCK
Accession:NM_033507
Location:INTRON

Gene Symbol:GCK
Accession:NM_033508
Location:INTRON

Gene Symbol:GCK
Accession:NM_001354801
Location:INTRON

Gene Symbol:GCK
Accession:XM_024446707
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:11508276   PMID:15928245   PMID:25741868   PMID:26467025   PMID:28492532   PMID:31905448   PMID:32468610  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000711772 CLINVAR
dbSNP (RS) rs1554335616 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene GCK CLINVAR
OMIM 138079 CLINVAR