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Details for PAG1:c.4678G>A, p.Glu1560Lys
| CHROMOSOME |
16 |
| GENOMIC COORDINATES |
|
| VARIANT EFFECT |
None |
| ANNOTATION FLAG |
None |
| GENE |
PAG1 |
| REFERENCE ALLELE |
C |
| ALTERNATE ALLELE |
T |
| TRANSCRIPT |
N.A. |
| CDNA CHANGE |
c.4678G>A |
| PROTEIN CHANGE |
p.Glu1560Lys |
| 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 |
|---|
| Deleterious | Damaging | 4.496793 | Disease causing |
|
| DBSNP ID |
NA |
| 1 combination linked to PAG1:c.4678G>A, p.Glu1560Lys |
OLI1244 |
| 1 disease linked to PAG1:c.4678G>A, p.Glu1560Lys |
Hypodontia |
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