The UMD-APC mutations database
Record ID: 3180

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.228_237dupp.Ser80LeufsX3

wt codonwt aamutant codonmutant aamutational eventmutation type
AGTSerins10aFs.Stop at 82

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
33_PSL2181---10-883Relative

Clinical data


Symptom

Reference


Reference IDReference
33Unpublished data