The UMD-APC mutations database
Record ID: 2466

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.432delTp.Ala146LeufsX24

wt codonwt aamutant codonmutant aamutational eventmutation type
CTTLeudel1cFs.Stop at 169Fr.

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
10_APC-081---923PRelative

Clinical data


Symptom

Reference


Reference IDReference
10Unpublished data