The UMD-APC mutations database
Record ID: 5785

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.IVS13+1G>T (c.1743+1G>T)

wt codonwt aamutant codonmutant aamutational eventmutation type
AAGLysspl+1Spl.G>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 (%)
Donor
AAGtacctt
19.2 _
AAGtacctt
19.2 _
0 %

Patient and sample data


Sample IDPatient status
37_P13.19-E27412158653Relative

Clinical data


Symptom

Reference


Reference IDReference
37Unpublished data