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Details for COL4A3:c.2342_2350del, p.Thr781_Gly783del
| CHROMOSOME |
2 |
| GENOMIC COORDINATES |
| hg19 | hg38 |
|---|
| 228145273 | 227280557 |
|
| VARIANT EFFECT |
None |
| ANNOTATION FLAG |
None |
| GENE |
COL4A3 |
| REFERENCE ALLELE |
ACTCCAGGAA |
| ALTERNATE ALLELE |
A |
| TRANSCRIPT |
N.A. |
| CDNA CHANGE |
c.2342_2350del |
| PROTEIN CHANGE |
p.Thr781_Gly783del |
| 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 | 2.047231 | Disease causing |
|
| DBSNP ID |
NA |
| 1 combination linked to COL4A3:c.2342_2350del, p.Thr781_Gly783del |
OLI973 |
| 1 disease linked to COL4A3:c.2342_2350del, p.Thr781_Gly783del |
Alport syndrome |
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