The UMD-APC mutations database
Record ID: 2479

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.5802_5803delCCp.Gln1935ValfsX13

wt codonwt aamutant codonmutant aamutational eventmutation type
CCCProdel2cFs.Stop at 1947Fr.

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-113---1489PRelative

Clinical data


Symptom

Reference


Reference IDReference
10Unpublished data