The UMD-APC mutations database
Record ID: 2794

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.464_465delAAp.Lys155ArgfsX12

wt codonwt aamutant codonmutant aamutational eventmutation type
AAALysdel2bFs.Stop at 166Fr.

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
19_18250---18250.002Relative

Clinical data


Symptom

Reference


Reference IDReference
19Unpublished data