The UMD-APC mutations database
Record ID: 5495

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.3532_3535delGATTp.Asp1178IlefsX3

wt codonwt aamutant codonmutant aamutational eventmutation type
GATAspdel4aFs.Stop at 1180Fr.

StructureKey Residue (HCD)Pyrimidin doubletCpG
Beta-catenin binding domain 4 

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_-5841ILP0412111E041233Relative

Clinical data


Symptom

Reference


Reference IDReference
7Unpublished data