The UMD-APC mutations database
Record ID: 3214

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.712C>Tp.Gln238X

wt codonwt aamutant codonmutant aamutational eventmutation type
CAAGlnTAAStopC->TTs

StructureKey Residue (HCD)Pyrimidin doubletCpG
 Yes, 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
33_PSL1070---08-782Relative

Clinical data


Symptom

Reference


Reference IDReference
33Unpublished data