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Details for TP63:c.1594C>G, p.Pro532Ala
| CHROMOSOME |
3 |
| GENOMIC COORDINATES |
| hg19 | hg38 |
|---|
| 189607215 | 189889426 |
|
| VARIANT EFFECT |
None |
| ANNOTATION FLAG |
None |
| GENE |
TP63 |
| REFERENCE ALLELE |
C |
| ALTERNATE ALLELE |
G |
| TRANSCRIPT |
N.A. |
| CDNA CHANGE |
c.1594C>G |
| PROTEIN CHANGE |
p.Pro532Ala |
| 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 |
|---|
| Tolerated | Benign | 2.146189 | Polymorphism |
|
| DBSNP ID |
NA |
| 1 combination linked to TP63:c.1594C>G, p.Pro532Ala |
OLI1243 |
| 1 disease linked to TP63:c.1594C>G, p.Pro532Ala |
Hypodontia |
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