The UMD-APC mutations database
Record ID: 5789

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.556delAp.Arg186GlufsX19

wt codonwt aamutant codonmutant aamutational eventmutation type
AGAArgdel1aFs.Stop at 204Fr.

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-214---3474 PRelative

Clinical data


Symptom

Reference


Reference IDReference
10Unpublished data