The UMD-APC mutations database
Record ID: 5658

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.3067dupp.Thr1023AsnfsX6

wt codonwt aamutant codonmutant aamutational eventmutation type
ACAThrins1bFs.Stop at 1028

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
7_-2282ILP0710269E070850Relative

Clinical data


Symptom

Reference


Reference IDReference
7Unpublished data