The UMD-APC mutations database
Record ID: 2595

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.IVS6-3C>G (c.730-3C>G)

wt codonwt aamutant codonmutant aamutational eventmutation type
AGGArgspl-3Spl.C>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 (%)
Acceptor
ccatcttaacagAG
84.8 _
ccatcttaagagAG
74.5 _ *
-12.1 %

Patient and sample data


Sample IDPatient status
10_APC-085---988PRelative

Clinical data


Symptom

Reference


Reference IDReference
10Unpublished data