The UMD-APC mutations database
Record ID: 2919

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.IVS6-29A>T (c.730-29A>T)

wt codonwt aamutant codonmutant aamutational eventmutation type
AGGArgspl-29Spl.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 (%)

Patient and sample data


Sample IDPatient status
19_19208---19208.001Relative

Clinical data


Symptom

Reference


Reference IDReference
19Unpublished data