Variation name (cDNA level) | Variation name (protein level) | Variation status |
c.IVS7-3T>C (c.835-3T>C) |
wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
GGT | Gly | spl-3 | Spl. | T>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 (%) | |||||
CTTAATTTTTAGGGT |
| CTTAATTTTCAGGGT |
| 8.5 % |
Sample ID | Patient status |
19_17991---17991.001 | Relative |
Symptom |
Reference ID | Reference |
19 | Unpublished data |