The UMD-APC mutations database
Record ID: 3666

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.IVS7+1G>A (c.834+1G>A)

wt codonwt aamutant codonmutant aamutational eventmutation type
CAGGlnspl+1Spl.G>A

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
CAGtaaata
31.7 _
CAGaaaata
31.7 _
0 %

Patient and sample data


Sample IDPatient status
SO_-375906906Relative

Clinical data


Symptom

Reference


Reference IDReference
71Unpublished data