The UMD-APC mutations database
Record ID: 5351

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.479insTAAGp.Ala160ValfsX9

wt codonwt aamutant codonmutant aamutational eventmutation type
GCTAlains4bFs.Stop at 168

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_-4510G07691G07691Relative

Clinical data


Symptom

Reference


Reference IDReference
71Unpublished data