The UMD-APC mutations database
Record ID: 4230

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.IVS4-1G>A (c.532-1G>A)

wt codonwt aamutant codonmutant aamutational eventmutation type
TTTPhespl-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 (%)
Acceptor
ttgtggttttagTT
78.5 _
ttgtggttttaaTT
49.5 _ *
-36.9 %

Patient and sample data


Sample IDPatient status
SO_-1241G00535G00535Relative

Clinical data


Symptom

Reference


Reference IDReference
71Unpublished data