The UMD-APC mutations database
Record ID: 3086

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.469_470delTGp.Trp157ValfsX10

wt codonwt aamutant codonmutant aamutational eventmutation type
TGGTrpdel2aFs.Stop at 166Fr.

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
20_2728-01---10370Relative

Clinical data


Symptom

Reference


Reference IDReference
20Unpublished data