The UMD-APC mutations database
Record ID: 3418

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.3817_3823delinsTTT

wt codonwt aamutant codonmutant aamutational eventmutation type
AGAArgindelsindelsindelsindels

StructureKey Residue (HCD)Pyrimidin doubletCpG
Beta-catenin degradation domai 

Mutation impact


At the mRNA levelOn restriction map
New restriction site(s): none
Lost restriction site(s): none

Conservation (0-1)SIFT (0-1)UMD-predictor (0-100)
0.75 - 65 (Probably pathogenous)

Patient and sample data


Sample IDPatient status
37_P08.12720868404Relative

Clinical data


Symptom

Reference


Reference IDReference
37Unpublished data