This site uses cookies!
We use cookies for security, analytics and session persistence reasons.
Please refer to our Cookie Policy
for more information.
Select Cookie Preferences (Hover for info)
Details for LRP6:c.4333A>G, p.Met1445Val
| CHROMOSOME |
12 |
| GENOMIC COORDINATES |
|
| VARIANT EFFECT |
None |
| ANNOTATION FLAG |
None |
| GENE |
LRP6 |
| REFERENCE ALLELE |
T |
| ALTERNATE ALLELE |
C |
| TRANSCRIPT |
N.A. |
| CDNA CHANGE |
c.4333A>G |
| PROTEIN CHANGE |
p.Met1445Val |
| 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 |
|---|
| 5.571e-05 | 0.0 | 0.0 | 0.0 | 0.0005982 | 0.0 | 1.759e-05 | 0.0 | 3.267e-05 |
|
| PREDICTORS |
| sift | pp2 hvar | cadd | mutationtaster |
|---|
| Tolerated | Benign | 1.404062 | Polymorphism |
|
| DBSNP ID |
NA |
| 1 combination linked to LRP6:c.4333A>G, p.Met1445Val |
OLI937 |
| 1 disease linked to LRP6:c.4333A>G, p.Met1445Val |
Hypodontia |
Found any issues with the data on this page? Report this entry.