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Details for ADGRV1:c.13165_13166insTGGAACTCCAGGAGGG, p.Ile4389MetfsTer11
| CHROMOSOME |
5 |
| GENOMIC COORDINATES |
|
| VARIANT EFFECT |
frameshift |
| ANNOTATION FLAG |
manually_corrected |
| GENE |
ADGRV1 |
| REFERENCE ALLELE |
A |
| ALTERNATE ALLELE |
ATGGAACTCCAGGAGGG |
| TRANSCRIPT |
N.A. |
| CDNA CHANGE |
c.13165_13166insTGGAACTCCAGGAGGG |
| PROTEIN CHANGE |
p.Ile4389MetfsTer11 |
| 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 | 3.369783 | Disease causing |
|
| DBSNP ID |
NA |
| 1 combination linked to ADGRV1:c.13165_13166insTGGAACTCCAGGAGGG, p.Ile4389MetfsTer11 |
OLI552 |
| 1 disease linked to ADGRV1:c.13165_13166insTGGAACTCCAGGAGGG, p.Ile4389MetfsTer11 |
Retinitis pigmentosa |
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