Gene Symbol | Transcript Accession | Exon Location | Assay Location | Protein ID |
---|---|---|---|---|
CLN8 | NM_018941.3 | 3 | 2467 | NP_061764.2 |
AF123758.1 | 3 | 2396 | AAF13116.1 | |
AF123759.1 | 3 | 2396 | AAF13117.1 | |
AF123760.1 | 3 | 2396 | AAF13118.1 | |
AF123761.1 | 3 | 2396 | AAF13119.1 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv1024325 | Chr8:651043 - 3203837 on Build GRCh38 | Gain | LOC101927815 LOC286083 ARHGEF10 MIR596 LOC105377776 DLGAP2 DLGAP2-AS1 LOC101928058 LOC105377774 MYOM2 ERICH1 LOC105377792 LOC100131395 LOC401442 LOC105377777 LOC101927752 MIR7160 CSMD1 KBTBD11 KBTBD11-OT1 LOC105377781 ERICH1-AS1 MIR3674 CLN8 |
esv3891267 | Chr8:1755403 - 2343278 on Build GRCh38 | Gain | LOC101927752 MIR7160 KBTBD11 ARHGEF10 MIR596 KBTBD11-OT1 LOC105377781 LOC101928058 MYOM2 MIR3674 CLN8 LOC100131395 |
esv3615841 | Chr8:1705527 - 1822229 on Build GRCh38 | Loss | LOC101927752 MIR596 DLGAP2 MIR3674 CLN8 |
dgv11822n54 | Chr8:1748920 - 1829405 on Build GRCh38 | Loss | LOC101927752 ARHGEF10 MIR596 MIR3674 CLN8 |
nsv609527 | Chr8:1733567 - 1805331 on Build GRCh38 | Loss | LOC101927752 MIR3674 CLN8 |
esv3576504 | Chr8:951237 - 1906751 on Build GRCh38 | Gain | LOC101927752 LOC286083 ARHGEF10 MIR596 LOC105377776 DLGAP2 DLGAP2-AS1 ERICH1-AS1 MIR3674 CLN8 |
nsv609531 | Chr8:1768870 - 2267169 on Build GRCh38 | Gain | MIR7160 KBTBD11 ARHGEF10 MIR596 KBTBD11-OT1 LOC105377781 LOC101928058 MYOM2 MIR3674 CLN8 LOC100131395 |
nsv509244 | Chr8:1756513 - 1850704 on Build GRCh38 | Insertion | LOC101927752 ARHGEF10 MIR596 MIR3674 CLN8 |
nsv1025591 | Chr8:1755786 - 2335806 on Build GRCh38 | Gain | LOC101927752 MIR7160 KBTBD11 ARHGEF10 MIR596 KBTBD11-OT1 LOC105377781 LOC101928058 MYOM2 MIR3674 CLN8 LOC100131395 |
esv3615846 | Chr8:1735209 - 1816717 on Build GRCh38 | Loss | LOC101927752 MIR3674 CLN8 |