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Details for OPTN:c.1243-740_1612+1292delins25, p.Gly538GlufsTer27
| CHROMOSOME |
10 |
| GENOMIC COORDINATES |
|
| VARIANT EFFECT |
frameshift |
| ANNOTATION FLAG |
not_found_in_databases |
| GENE |
OPTN |
| REFERENCE ALLELE |
None |
| ALTERNATE ALLELE |
None |
| TRANSCRIPT |
N.A. |
| CDNA CHANGE |
c.1243-740_1612+1292delins25 |
| PROTEIN CHANGE |
p.Gly538GlufsTer27 |
| 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 | None | None |
|
| DBSNP ID |
NA |
| 1 combination linked to OPTN:c.1243-740_1612+1292delins25, p.Gly538GlufsTer27 |
OLI360 |
| 1 disease linked to OPTN:c.1243-740_1612+1292delins25, p.Gly538GlufsTer27 |
Frontotemporal dementia |
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