The UMD-APC mutations database
Record ID: 2920

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.IVS7-3T>C (c.835-3T>C)

wt codonwt aamutant codonmutant aamutational eventmutation type
GGTGlyspl-3Spl.T>C

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?
CTTAATTTTTAGGGT
82.9 _
CTTAATTTTCAGGGT
90.6 _
8.5 %

Patient and sample data


Sample IDPatient status
19_17991---17991.001Relative

Clinical data


Symptom

Reference


Reference IDReference
19Unpublished data