The UMD-APC mutations database
Record ID: 4387

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.366delGp.Phe123LeufsX2

wt codonwt aamutant codonmutant aamutational eventmutation type
GGGGlydel1cFs.Stop at 124Fr.

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_-1669G01270G01270Relative

Clinical data


Symptom

Reference


Reference IDReference
71Unpublished data