Variation name (cDNA level) | Variation name (protein level) | Variation status |
c.IVS11-8A>C (c.1549-8A>C) |
wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
GCT | Ala | spl-8 | Spl. | A>C |
Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
ASEF binding domain ARM2 |
At the mRNA level | On restriction map |
New restriction site(s): none Lost restriction site(s): none |
Impact on splicing | ||||||||||
Splice site type | Wild type sequence | CV | Mutant type sequence | CV | Variation (%) | |||||
tttaatttacagGC |
| tttactttacagGC |
| 2.8 % |
Sample ID | Patient status |
33_PSL2427---09-528 | Relative |
Symptom |
Reference ID | Reference |
33 | Unpublished data |