The UMD-APC mutations database
Record ID: 2928

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.IVS4-8G>A (c.532-8G>A)

wt codonwt aamutant codonmutant aamutational eventmutation type
TTTPhespl-8Spl.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 (%)
Cryptic Acceptor?
TATTATTTGTGGTTT
50.9 _
TATTATTTGTAGTTT
79.8 _ *
36.3 %

Patient and sample data


Sample IDPatient status
19_19094---19094.001Relative

Clinical data


Symptom

Reference


Reference IDReference
19Unpublished data