The UMD-APC mutations database
Record ID: 2173

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.4245delTp.Ser1415ArgfsX4

wt codonwt aamutant codonmutant aamutational eventmutation type
AGTSerdel1cFs.Stop at 1418Fr.

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
4_16016---16016Relative

Clinical data


Symptom

Reference


Reference IDReference
4Unpublished data