The UMD-APC mutations database
Record ID: 3390

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.934_8532delp.Val312fsX17

wt codonwt aamutant codonmutant aamutational eventmutation type
GTGValdel7599aInFStop at 328InF

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_P02.011100---Relative

Clinical data


Symptom

Reference


Reference IDReference
37Unpublished data