Table 4.
Splicing Analysis of rs2767403.
| Overview (on GRCh38.13) | |||
|---|---|---|---|
| Mutation | Gene | ||
| Name: | rs2767403 | 9:94811838 C/G | C9orf3 (AOPEP) |
| HGVS Nomenclature: | ENST00000277198.6:c.1364+10836C > G | 9:94726669-95148264 | |
| Analysis Results | |||
| Signal | Interpretation | ||
| New Donor splice site | Activation of a cryptic Donor site. Potential alteration of splicing | ||
| Details | |||
| Name | Position | Sequences | Variation |
| HSF Donor site (matrix GT) | chr9:94811835 | TCTCTCTGA > TCTGTCTGA | 38.58 > 65.72 (70.35%) |
| Analysis in silico was performed with Genomnis Human Splicing Finder software (www.genomnis.com/, accessed on 21 April 2021) | |||