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rs193922272

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs193922272(A;G)
Make rs193922272(G;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position44145510
GeneGCK
is asnp
is mentioned by
dbSNPrs193922272
ebirs193922272
HLIrs193922272
Exacrs193922272
Varsomers193922272
Maprs193922272
PheGenIrs193922272
hapmaprs193922272
1000 genomesrs193922272
hgdprs193922272
ensemblrs193922272
gopubmedrs193922272
geneviewrs193922272
scholarrs193922272
googlers193922272
pharmgkbrs193922272
gwascentralrs193922272
openSNPrs193922272
23andMers193922272
23andMe allrs193922272
SNP Nexus

SNPshotrs193922272
SNPdbers193922272
MSV3drs193922272
GWAS Ctlgrs193922272
Max Magnitude0
ClinVar
Risk rs193922272(G;G)
Alt rs193922272(G;G)
Reference rs193922272(A;A)
Significance Probable-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.44185109T>C
CLNSRC ClinVar LabCorp
CLNACC RCV000029851.1,


[PMID 7542040] Characterization of Japanese families with early-onset type 2 (non-insulin dependent) diabetes mellitus and screening for mutations in the glucokinase and mitochondrial tRNA(Leu(UUR)) genes.


[PMID 8433729] Familial hyperglycemia due to mutations in glucokinase. Definition of a subtype of diabetes mellitus.


[PMID 8446612OA-icon.png] Glucokinase mutations associated with non-insulin-dependent (type 2) diabetes mellitus have decreased enzymatic activity: implications for structure/function relationships.


[PMID 10525657] Mutants of glucokinase cause hypoglycaemia- and hyperglycaemia syndromes and their analysis illuminates fundamental quantitative concepts of glucose homeostasis.


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


[PMID 17353190] Glucokinase thermolability and hepatic regulatory protein binding are essential factors for predicting the blood glucose phenotype of missense mutations.