The UMD-APC mutations database
Record ID: 2612

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.2377C>Tp.Gln793X

wt codonwt aamutant codonmutant aamutational eventmutation type
CAAGlnTAAStopC->TTs

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
10_APC-150---1979PRelative

Clinical data


Symptom

Reference


Reference IDReference
10Unpublished data