Variation name (cDNA level) | Variation name (protein level) | Variation status |
c.IVS4-1insAAAC (c.532-1insAAAC) |
wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
TTT | Phe | spl-1 | Spl. | insAAAC | Tv |
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 (%) | ||
ttgtggttttagTT |
| ttgtggttttaAA | --- | --- |
Sample ID | Patient status |
SO_-44812121212 | Relative |
Symptom |
Reference ID | Reference |
71 | Unpublished data |