Variation name (cDNA level) | Variation name (protein level) | Variation status |
c.IVS4-8G>A (c.532-8G>A) |
wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
TTT | Phe | spl-8 | Spl. | G>A |
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 (%) | |||||
TATTATTTGTGGTTT |
| TATTATTTGTAGTTT |
| 36.3 % |
Sample ID | Patient status |
19_19094---19094.001 | Relative |
Symptom |
Reference ID | Reference |
19 | Unpublished data |