The UMD-APC mutations database
Record ID: 3942

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.4142delCp.Pro1381HisfsX34

wt codonwt aamutant codonmutant aamutational eventmutation type
CCAProdel1bFs.Stop at 1414Fr.

StructureKey Residue (HCD)Pyrimidin doubletCpG
Beta-catenin degradation domai 

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_6050604040E081032Relative

Clinical data


Symptom

Reference


Reference IDReference
7Unpublished data