The UMD-APC mutations database
Record ID: 4933

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.3079delTp.Tyr1027IlefsX10

wt codonwt aamutant codonmutant aamutational eventmutation type
TATTyrdel1aFs.Stop at 1036Fr.

StructureKey Residue (HCD)Pyrimidin doubletCpG
Beta-catenin binding domain 1 

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_-904G04592G04592Relative

Clinical data


Symptom

Reference


Reference IDReference
71Unpublished data