The UMD-APC mutations database
Record ID: 3463

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.4132C>Tp.Gln1378X

wt codonwt aamutant codonmutant aamutational eventmutation type
CAGGlnTAGStopC->TTs

StructureKey Residue (HCD)Pyrimidin doubletCpG
Beta-catenin degradation domai Yes, coding strandNo

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_P10.008-E1281799622Relative

Clinical data


Symptom

Reference


Reference IDReference
37Unpublished data