Variation name (cDNA level) | Variation name (protein level) | Variation status |
c.1409_1743del | p.Gly471IlefsX19 |
wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
GGG | Gly | del335b | Fs. | Stop at 489 | Fr. |
Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
ASEF binding domain ARM1 |
At the mRNA level | On restriction map |
New restriction site(s): none Lost restriction site(s): none |
Sample ID | Patient status |
19_10996---10966.003 | Relative |
Symptom |
Reference ID | Reference |
19 | Unpublished data |