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rs193922289

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs193922289(A;A)
Make rs193922289(A;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position44152420
GeneGCK
is asnp
is mentioned by
dbSNPrs193922289
ebirs193922289
HLIrs193922289
Exacrs193922289
Varsomers193922289
Maprs193922289
PheGenIrs193922289
hapmaprs193922289
1000 genomesrs193922289
hgdprs193922289
ensemblrs193922289
gopubmedrs193922289
geneviewrs193922289
scholarrs193922289
googlers193922289
pharmgkbrs193922289
gwascentralrs193922289
openSNPrs193922289
23andMers193922289
23andMe allrs193922289
SNP Nexus

SNPshotrs193922289
SNPdbers193922289
MSV3drs193922289
GWAS Ctlgrs193922289
Max Magnitude0
ClinVar
Risk rs193922289(A;A)
Alt rs193922289(A;A)
Reference rs193922289(G;G)
Significance Pathogenic
Disease Maturity-onset diabetes of the young
Variation info
Gene GCK
CLNDBN Maturity-onset diabetes of the young, type 2
Reversed 1
HGVS NC_000007.13:g.44192019C>T
CLNSRC ClinVar LabCorp
CLNACC RCV000029872.1,


[PMID 18399] The biochemistry of the uptake, storage, and release of catecholamines.


[PMID 12955723] Identification of eight novel glucokinase mutations in Italian children with maturity-onset diabetes of the young.


[PMID 14517946] Glucokinase (GCK) mutations in hyper- and hypoglycemia: maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemia of infancy.


[PMID 17389332] Cell biology assessment of glucokinase mutations V62M and G72R in pancreatic beta-cells: evidence for cellular instability of catalytic activity.


[PMID 18481947] Glucokinase (GCK) and other susceptibility genes for beta-cell dysfunction: the candidate approach.


[PMID 19187021] Biochemical characterization of MODY2 glucokinase variants V62M and G72R reveals reduced enzymatic activities relative to wild type.