The UMD-APC mutations database
Record ID: 2927

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.IVS9-61A>G (c.1313-61A>G)

wt codonwt aamutant codonmutant aamutational eventmutation type
ATGMetspl-61Spl.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 Donor?
ACAataaac
42.5 _
ACAgtaaac
69.4 _ *
38.7 %

Patient and sample data


Sample IDPatient status
19_15193---15193.001Relative

Clinical data


Symptom

Reference


Reference IDReference
19Unpublished data