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Details for GCK:c.868G>T, p.Glu290Ter
| CHROMOSOME |
7 |
| GENOMIC COORDINATES |
|
| VARIANT EFFECT |
None |
| ANNOTATION FLAG |
None |
| GENE |
GCK |
| REFERENCE ALLELE |
C |
| ALTERNATE ALLELE |
A |
| TRANSCRIPT |
N.A. |
| CDNA CHANGE |
c.868G>T |
| PROTEIN CHANGE |
p.Glu290Ter |
| ALLELE FREQUENCY |
| 1KGP |
|---|
| Global | AFR | AMR | EAS | EUR | SAS |
|---|
| None | None | None | None | None | None |
| Gnomad |
|---|
| Global | AFR | AMR | ASJ | EAS | FIN | NFE | OTH | SAS |
|---|
| None | None | None | None | None | None | None | None | None |
|
| PREDICTORS |
| sift | pp2 hvar | cadd | mutationtaster |
|---|
| None | None | 8.390657 | Disease causing |
|
| DBSNP ID |
NA |
| 1 combination linked to GCK:c.868G>T, p.Glu290Ter |
OLI962 |
| 1 disease linked to GCK:c.868G>T, p.Glu290Ter |
MODY |
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