The UMD-APC mutations database
Record ID: 4613

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.1327dupp.Glu443GlyfsX17

wt codonwt aamutant codonmutant aamutational eventmutation type
GAAGluins1bFs.Stop at 459

StructureKey Residue (HCD)Pyrimidin doubletCpG
 

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_-2273G02601G02601Relative

Clinical data


Symptom

Reference


Reference IDReference
71Unpublished data