RGD:13475617 Rat Genome Database

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Variant: RGD:13475617 -  Homo sapiens

RGD ID: 13475617
RS ID: rs1554335421
ClinVar ID: CV444136
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GCK  LOC105375258  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 7 44,189,459
GRCh38 7 44,149,860
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.44149860C>T
NG_008847.2:g.53311G>A
NC_000007.13:g.44189459C>T
NM_033507.3:c.583-1G>A
More... 		08/02/2022 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:LOC105375258
Accession:XR_927223
Location:EXON;NON-CODING

Gene Symbol:GCK
Accession:NM_033508
Location:INTRON

Gene Symbol:GCK
Accession:NM_001354802
Location:INTRON

Gene Symbol:GCK
Accession:NM_000162
Location:INTRON

Gene Symbol:GCK
Accession:NM_001354803
Location:INTRON

Gene Symbol:GCK
Accession:XM_024446707
Location:INTRON

Gene Symbol:GCK
Accession:NM_001354801
Location:INTRON

Gene Symbol:GCK
Accession:NM_033507
Location:INTRON

Gene Symbol:GCK
Accession:NM_001354800
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:36257325  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000519932 CLINVAR
  RCV002285354 CLINVAR
dbSNP (RS) rs1554335421 CLINVAR
MedGen C0342277 CLINVAR
  CN517202 CLINVAR
NCBI Gene GCK CLINVAR
OMIM 125851 CLINVAR
  138079 CLINVAR