The UMD-APC mutations database
Record ID: 2961

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.IVS13+78A>G (c.1743+78A>G)

wt codonwt aamutant codonmutant aamutational eventmutation type
AAGLysspl+78Spl.A>G

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 (%)
Cryptic Acceptor?
TAGCCATGAGATTTC
40.9 _
TAGCCATGAGAGTTC
69.8 _ *
41.5 %

Patient and sample data


Sample IDPatient status
19_19912---19112.001Relative

Clinical data


Symptom

Reference


Reference IDReference
19Unpublished data