The UMD-APC mutations database
Record ID: 2471

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.5775delCp.Ile1926TyrfsX44

wt codonwt aamutant codonmutant aamutational eventmutation type
CCCProdel1cFs.Stop at 1969Fr.

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-158---1812PRelative

Clinical data


Symptom

Reference


Reference IDReference
10Unpublished data