The UMD-APC mutations database
Record ID: 2314

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.IVS9+3A>G (c.1312+3A>G)

wt codonwt aamutant codonmutant aamutational eventmutation type
ATGMetspl+3Spl.A>G

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
CAAtatgtt
17.6 _
CAAtaggtt
19 _
7.3 %

Patient and sample data


Sample IDPatient status
4_22408---26766Relative

Clinical data


Symptom

Reference


Reference IDReference
4Unpublished data