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Details for LRP6:c.2450C>G, p.Ser817Cys
| CHROMOSOME |
12 |
| GENOMIC COORDINATES |
|
| VARIANT EFFECT |
None |
| ANNOTATION FLAG |
None |
| GENE |
LRP6 |
| REFERENCE ALLELE |
G |
| ALTERNATE ALLELE |
C |
| TRANSCRIPT |
N.A. |
| CDNA CHANGE |
c.2450C>G |
| PROTEIN CHANGE |
p.Ser817Cys |
| ALLELE FREQUENCY |
| 1KGP |
|---|
| Global | AFR | AMR | EAS | EUR | SAS |
|---|
| 0.0022 | 0.0 | 0.0 | 0.0109 | 0.0 | 0.0 |
| Gnomad |
|---|
| Global | AFR | AMR | ASJ | EAS | FIN | NFE | OTH | SAS |
|---|
| 0.0008791 | 0.0001846 | 5.782e-05 | 0.0 | 0.01153 | 0.0 | 0.0 | 0.0003262 | 6.534e-05 |
|
| PREDICTORS |
| sift | pp2 hvar | cadd | mutationtaster |
|---|
| Tolerated | Benign | 3.107078 | Polymorphism |
|
| DBSNP ID |
NA |
| 1 combination linked to LRP6:c.2450C>G, p.Ser817Cys |
OLI937 |
| 1 disease linked to LRP6:c.2450C>G, p.Ser817Cys |
Hypodontia |
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