The UMD-APC mutations database
Record ID: 2328

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.288T>Ap.Tyr96X

wt codonwt aamutant codonmutant aamutational eventmutation type
TATTyrTAAStopT->ATv

StructureKey Residue (HCD)Pyrimidin doubletCpG
 NoNo

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_38954---38954Relative

Clinical data


Symptom

Reference


Reference IDReference
4Unpublished data