rs193922289
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs193922289(A;A) |
| Make rs193922289(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 44152420 |
| Gene | GCK |
| is a | snp |
| is | mentioned by |
| dbSNP | rs193922289 |
| dbSNP (classic) | rs193922289 |
| ClinGen | rs193922289 |
| ebi | rs193922289 |
| HLI | rs193922289 |
| Exac | rs193922289 |
| Gnomad | rs193922289 |
| Varsome | rs193922289 |
| LitVar | rs193922289 |
| Map | rs193922289 |
| PheGenI | rs193922289 |
| Biobank | rs193922289 |
| 1000 genomes | rs193922289 |
| hgdp | rs193922289 |
| ensembl | rs193922289 |
| geneview | rs193922289 |
| scholar | rs193922289 |
| rs193922289 | |
| pharmgkb | rs193922289 |
| gwascentral | rs193922289 |
| openSNP | rs193922289 |
| 23andMe | rs193922289 |
| 23andMe all | rs193922289 |
| SNPshot | rs193922289 |
| SNPdbe | rs193922289 |
| MSV3d | rs193922289 |
| GWAS Ctlg | rs193922289 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs193922289(A;A) |
| Alt | rs193922289(A;A) |
| Reference | Rs193922289(G;G) |
| Significance | Pathogenic |
| Disease | Maturity-onset diabetes of the young not provided |
| Variation | info |
| Gene | GCK |
| CLNDBN | Maturity-onset diabetes of the young, type 2 not provided |
| Reversed | 1 |
| HGVS | NC_000007.13:g.44192019C>T |
| CLNSRC | ClinVar LabCorp |
| CLNACC | RCV000029872.1, RCV000255585.1, |
[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.
