The UMD-APC mutations database
Record ID: 5260

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.1121_1143delp.Arg374GlnfsX15

wt codonwt aamutant codonmutant aamutational eventmutation type
CGGArgdel23bFs.Stop at 388Fr.

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
SO_-3517G06678G06678Relative

Clinical data


Symptom

Reference


Reference IDReference
71Unpublished data