Variation name (cDNA level) | Variation name (protein level) | Variation status |
c.IVS1-82A>C (c.136-82A>C) |
wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
GAA | Glu | spl-82 | Spl. | A>C |
Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
Dimerization domain |
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 (%) | |||||
Sample ID | Patient status |
19_21938---21938-001 | Relative |
Symptom |
Reference ID | Reference |
19 | Unpublished data |