The UMD-APC mutations database
Record ID: 2420

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.511dupp.Ser171LysfsX6

wt codonwt aamutant codonmutant aamutational eventmutation type
AGTSerins1bFs.Stop at 176

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-4486------Relative

Clinical data


Symptom

Reference


Reference IDReference
71Unpublished data