The UMD-APC mutations database
Record ID: 5764

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.3189_3192delTGAGp.Glu1064LysfsX61

wt codonwt aamutant codonmutant aamutational eventmutation type
AGTSerdel4cFs.Stop at 1124Fr.

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
37_P99.0413350152917Relative

Clinical data


Symptom

Reference


Reference IDReference
37Unpublished data