Variation name (cDNA level) | Variation name (protein level) | Variation status |
c.865delG | p.Ala289ProfsX4 |
wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
GCC | Ala | del1a | Fs. | Stop at 292 | Fr. |
Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
At the mRNA level | On restriction map |
New restriction site(s): none Lost restriction site(s): none |
Sample ID | Patient status |
37_P13.50-E25275151697 | Relative |
Symptom |
Reference ID | Reference |
37 | Unpublished data |