The UMD-APC mutations database
Record ID: 2481

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.3199_3202delCAATp.Ser1068GlyfsX57

wt codonwt aamutant codonmutant aamutational eventmutation type
CAAGlndel4aFs.Stop at 1124Fr.

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-016---91PRelative

Clinical data


Symptom

Reference


Reference IDReference
10Unpublished data