The UMD-APC mutations database
Record ID: 3430

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.IVS5-2A>T (c.646-2A>T)

wt codonwt aamutant codonmutant aamutational eventmutation type
CGAArgspl-2Spl.A>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 (%)
Acceptor
gttttattttagCG
79.9 _
gttttatttttgCG
51 _ *
-36.2 %

Patient and sample data


Sample IDPatient status
37_P11.027-E16922RNA11660Relative

Clinical data


Symptom

Reference


Reference IDReference
37Unpublished data