The UMD-APC mutations database
Record ID: 5770

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.1028_1029dupp.Cys344AlafsX111

wt codonwt aamutant codonmutant aamutational eventmutation type
TGTCysins2aFs.Stop at 454

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
10_APC-119---3568 PRelative

Clinical data


Symptom

Reference


Reference IDReference
10Unpublished data