The UMD-APC mutations database
Record ID: 4045

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.250G>Tp.Gly84X

wt codonwt aamutant codonmutant aamutational eventmutation type
GGAGlyTGAStopG->TTv

StructureKey Residue (HCD)Pyrimidin doubletCpG
 Yes, non coding strandNo

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
7_10997911915E101271Relative

Clinical data


Symptom

Reference


Reference IDReference
7Unpublished data