The UMD-APC mutations database
Record ID: 4356

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.IVS8+2T>C (c.933+2T>C)

wt codonwt aamutant codonmutant aamutational eventmutation type
AAGLysspl+2Spl.T>C

StructureKey Residue (HCD)Pyrimidin doubletCpG
 

Mutation impact


At the mRNA levelOn restriction map
New restriction site(s): none
Lost restriction site(s): none

Impact on splicing
Splice site type Wild type sequence CV Mutant type sequence CV Variation (%)
Donor
AAGtaacag
22.5 _
AAGtcacag
22.5 _
0 %

Patient and sample data


Sample IDPatient status
SO_-2255G01161G01161Relative

Clinical data


Symptom

Reference


Reference IDReference
71Unpublished data