The UMD-APC mutations database
Record ID: 2464

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.5996delCp.Pro1999GlnfsX45

wt codonwt aamutant codonmutant aamutational eventmutation type
CCAProdel1bFs.Stop at 2043Fr.

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-111---1660PRelative

Clinical data


Symptom

Reference


Reference IDReference
10Unpublished data