RGD:150410201 Rat Genome Database

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Variant: RGD:150410201 -  Homo sapiens

RGD ID: 150410201
RS ID: rs2128821468
ClinVar ID: CV1190675
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GCK  LOC105375258  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 7 44,189,358
GRCh38 7 44,149,759
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1074t2:c.682+1G>A
NM_033508.3:c.676+1G>A
NM_000162.5:c.679+1G>A
NM_001354800.1:c.679+1G>A
More... 		10/14/2021 splice donor variant pathogenic Mason type diabetes; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:LOC105375258
Accession:XR_927223
Location:EXON;NON-CODING

Gene Symbol:GCK
Accession:NM_001354800
Location:INTRON

Gene Symbol:GCK
Accession:NM_033508
Location:INTRON

Gene Symbol:GCK
Accession:NM_033507
Location:INTRON

Gene Symbol:GCK
Accession:NM_001354801
Location:INTRON

Gene Symbol:GCK
Accession:NM_001354803
Location:INTRON

Gene Symbol:GCK
Accession:NM_000162
Location:INTRON

Gene Symbol:GCK
Accession:NM_001354802
Location:INTRON

Gene Symbol:GCK
Accession:XM_024446707
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:7553875   PMID:9867845   PMID:11508276   PMID:14578306   PMID:16199547   PMID:17573900   PMID:19790256   PMID:24323243   PMID:25015100   PMID:26467025   PMID:28492532   PMID:31957151  
PMID:32375122  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001565927 CLINVAR
  RCV002368586 CLINVAR
dbSNP (RS) rs2128821468 CLINVAR
MedGen C0342276 CLINVAR
  C3661900 CLINVAR
NCBI Gene GCK CLINVAR
OMIM 138079 CLINVAR
  606391 CLINVAR
SNOMED CT 28453007 CLINVAR