The UMD-APC mutations database
Record ID: 2934

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.IVS8-92G>C (c.934-92G>C)

wt codonwt aamutant codonmutant aamutational eventmutation type
GTGValspl-92Spl.G->CTv

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 (%)

Patient and sample data


Sample IDPatient status
19_20762---20762-001Relative

Clinical data


Symptom

Reference


Reference IDReference
19Unpublished data