The UMD-APC mutations database
Record ID: 3997

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.1259_1262delGTTGp.Cys420TrpfsX33

wt codonwt aamutant codonmutant aamutational eventmutation type
TGTCysdel4bFs.Stop at 452Fr.

StructureKey Residue (HCD)Pyrimidin doubletCpG
 

Mutation impact


At the mRNA levelOn restriction map
New restriction site(s): none
Lost restriction site(s): none

Patient and sample data


Sample IDPatient status
7_9489811778E090198Relative

Clinical data


Symptom

Reference


Reference IDReference
7Unpublished data