The UMD-APC mutations database
Record ID: 3440

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.IVS5+42C>T (c.645+42C>T)

wt codonwt aamutant codonmutant aamutational eventmutation type
CAGGlnspl+42Spl.C>T

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
37_F07.1084150---Relative

Clinical data


Symptom

Reference


Reference IDReference
37Unpublished data