Variation name (cDNA level) | Variation name (protein level) | Variation status |
c.3980_3983dup | p.Leu1330ValfsX12 |
wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
CAG | Gln | ins4c | Fs. | Stop at 1341 |
Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
MSH2 interaction |
At the mRNA level | On restriction map |
New restriction site(s): none Lost restriction site(s): none |
Sample ID | Patient status |
19_2690326903-00126903-001 | Relative |
Symptom |
Reference ID | Reference |
19 | Unpublished data |