Variation name (cDNA level) | Variation name (protein level) | Variation status |
c.IVS6-1G>C (c.730-1G>C) |
wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
AGG | Arg | spl-1 | Spl. | G>C |
Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
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 (%) | |||||
ccatcttaacagAG |
| ccatcttaacacAG |
| -34.1 % |
Sample ID | Patient status |
7_5382600164E061714 | Relative |
Symptom |
Reference ID | Reference |
7 | Unpublished data |