The UMD-APC mutations database
Record ID: 2548

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.1409_8532delp.Gly470fsX14

wt codonwt aamutant codonmutant aamutational eventmutation type
GGGGlydel7124bFs.Stop at 483Fr.

StructureKey Residue (HCD)Pyrimidin doubletCpG
ASEF binding domain ARM1 

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
10_APC-157---2080PRelative

Clinical data


Symptom

Reference


Reference IDReference
10Unpublished data