The UMD-APC mutations database
Record ID: 4466

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.3815C>Gp.Ser1272X

wt codonwt aamutant codonmutant aamutational eventmutation type
TCASerTGAStopC->GTv

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
SO_-505G01623G01623Relative

Clinical data


Symptom

Reference


Reference IDReference
71Unpublished data