The UMD-APC mutations database
Record ID: 5769

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.3653_3654delCGp.Thr1218IlefsX6

wt codonwt aamutant codonmutant aamutational eventmutation type
ACGThrdel2bFs.Stop at 1223Fr.

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-219---3547 PRelative

Clinical data


Symptom

Reference


Reference IDReference
10Unpublished data