The UMD-APC mutations database
Record ID: 2371

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.4175C>Gp.Ser1392X

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
4_35813---35813Relative

Clinical data


Symptom

Reference


Reference IDReference
4Unpublished data