The UMD-APC mutations database
Record ID: 5752

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.6053delCp.Pro2018GlnfsX26

wt codonwt aamutant codonmutant aamutational eventmutation type
CCAProdel1bFs.Stop at 2043Fr.

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
37_P12.3121195135577Relative

Clinical data


Symptom

Reference


Reference IDReference
37Unpublished data