The UMD-MSH2 mutations database
Record ID: 3153

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.IVS15-26T>C (c.2635-26T>C)

wt codonwt aamutant codonmutant aamutational eventmutation type
CAAGlnspl-26Spl.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 (%)
Alternative Branch Point?
tactaat
81.8 _
tacCaat
65.2 _ *
-20.2 %

Patient and sample data


Sample IDPatient status
17_131767518474001---Relative

Clinical data


Symptom

Reference


Reference IDReference
17Unpublished data