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 |
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.