RGD:155267500 Rat Genome Database

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Variant: RGD:155267500 -  Homo sapiens

RGD ID: 155267500
ClinVar ID: CV1693073
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GCK  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 7 44,189,665
GRCh38 7 44,150,066
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001354800.1:c.484-2A>G
NM_033507.3:c.487-2A>G
LRG_1074:g.53105A>G
NG_008847.2:g.53105A>G
More... 		05/11/2023 splice acceptor variant pathogenic Diabetes mellitus MODY type 2; Diabetes mellitus, type II, autosomal dominant; MODY glucokinase-related; MODY type 2; none provided
Disease Annotations     Click to see Annotation Detail View


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

Gene Symbol:GCK
Accession:NM_001354800
Location:INTRON

Gene Symbol:GCK
Accession:NM_001354802
Location:INTRON

Gene Symbol:GCK
Accession:XM_024446707
Location:INTRON

Gene Symbol:GCK
Accession:NM_033507
Location:INTRON

Gene Symbol:GCK
Accession:NM_001354803
Location:INTRON

Gene Symbol:GCK
Accession:NM_033508
Location:INTRON

Gene Symbol:GCK
Accession:NM_001354801
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:7553875   PMID:9867845   PMID:14578306   PMID:16199547   PMID:23771925   PMID:24323243   PMID:25015100   PMID:25741868   PMID:28492532   PMID:36257325  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002285558 CLINVAR
  RCV003698896 CLINVAR
MedGen C0342277 CLINVAR
  C3661900 CLINVAR
NCBI Gene GCK CLINVAR
OMIM 125851 CLINVAR
  138079 CLINVAR