The UMD-APC mutations database
Record ID: 3277

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.423_531delp.Arg141SerfsX8

wt codonwt aamutant codonmutant aamutational eventmutation type
AGGArgdel109cFs.Stop at 148Fr.

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
37_F06.0547107---Relative

Clinical data


Symptom

Reference


Reference IDReference
37Unpublished data