Variation name (cDNA level) | Variation name (protein level) | Variation status |
c.1875_1878delGACA | p.Asn627LeufsX2 |
wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
CAG | Gln | del4c | Fs. | Stop at 628 | Fr. |
Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
ASEF binding domain ARM4 |
At the mRNA level | On restriction map |
New restriction site(s): none Lost restriction site(s): none |
Sample ID | Patient status |
SO_-2879567956 | Relative |
Symptom |
Reference ID | Reference |
71 | Unpublished data |