The UMD-APC mutations database
Record ID: 2473

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.2093_2117delp.Leu698CysfsX12

wt codonwt aamutant codonmutant aamutational eventmutation type
TTALeudel25bFs.Stop at 709Fr.

StructureKey Residue (HCD)Pyrimidin doubletCpG
ASEF binding domain ARM6 

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-084---990PRelative

Clinical data


Symptom

Reference


Reference IDReference
10Unpublished data