The UMD-APC mutations database
Record ID: 2861

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.646_8532delp.Arg216fsX2

wt codonwt aamutant codonmutant aamutational eventmutation type
CGAArgdel7887aInFStop at 217InF

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
19_10671---10671.001Relative

Clinical data


Symptom

Reference


Reference IDReference
19Unpublished data