RGD:11586795 Rat Genome Database

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Variant: RGD:11586795 -  Homo sapiens

RGD ID: 11586795
RS ID: rs13306388
ClinVar ID: CV303071
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GCK  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 7 44,184,403
GRCh38 7 44,144,804
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Prevalence Trait Synonyms
NM_001354801.1:c.*332G>A
NC_000007.14:g.44144804C>T
NC_000007.13:g.44184403C>T
NG_008847.2:g.58367G>A
More... 		06/14/2016 3 prime utr variant benign the estimated incidence of permanent neonatal diabetes ranges from 1:215,000 to 1:260,000 live births Diabetes mellitus MODY type 2; Diabetes mellitus, type II, autosomal dominant; Hyperinsulinemic hypoglycemia familial 3; MODY glucokinase-related; MODY type 2; Permanent diabetes mellitus of infancy

Variant Details
Variant Transcripts
Gene Symbol:GCK
Accession:NM_033508
Location:3UTRS;EXON

Gene Symbol:GCK
Accession:NM_001354803
Location:3UTRS;EXON

Gene Symbol:GCK
Accession:NM_033507
Location:3UTRS;EXON

Gene Symbol:GCK
Accession:NM_000162
Location:3UTRS;EXON

Gene Symbol:GCK
Accession:NM_001354801
Location:3UTRS;EXON

Gene Symbol:GCK
Accession:XM_024446707
Location:3UTRS;EXON

Gene Symbol:GCK
Accession:NM_001354800
Location:INTRON

Gene Symbol:GCK
Accession:NM_001354802
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000290517 CLINVAR
  RCV000296546 CLINVAR
  RCV000344515 CLINVAR
  RCV000382811 CLINVAR
dbSNP (RS) rs13306388 CLINVAR
MedGen C0342277 CLINVAR
  C1833104 CLINVAR
  C1865290 CLINVAR
  CN239376 CLINVAR
NCBI Gene GCK CLINVAR
OMIM 125851 CLINVAR
  138079 CLINVAR
  602485 CLINVAR
  606176 CLINVAR