The UMD-APC mutations database
Mutation c.IVS9+3A>G (c.1312+3A>G)


Splice site type Wild type sequence CV Mutant type sequence CV Variation (%)
Donor
CAAtatgtt
17.6 _
CAAtaggtt
19 _
7.3 %


     Data for this mutation

Co occurence of MLH1, MSH2, MSH6, MUTYH and APC mutations (Pathogenic mutations, Unclassified variants, Non-pathogenic variation)
Sample IDAPCMLH1MSH2MSH6MUTYH
10_APC-108---1348P-----
10_APC-108---1431P-----
10_APC-108---1534P-----
10_APC-144---1840P-----
10_APC-172---2346P-----
10_APC-172---2694 P-----
37_P98.08198--------
4_22408---22408-----
4_22408---26766-----
4_22408---26768-----
4_22408---30596-----
4_22408---36556-----
4_22408---41882-----
SO_-114185698569-----
SO_-1141G00310G00310-----
SO_-1141G00798G00798-----
SO_-2306G01225G01225-----
SO_-2306G01226G01226-----
SO_-2827G02661G02661-----
SO_-29219481948-----
SO_-29219501950-----
SO_-292723723-----
SO_-292724724-----
SO_-292725725-----
SO_-4878G07325G07325-----

Complementary data about this mutation
AnalysisResult DateOriginPMID/dbSNP
In vitro analysisRT-PCR: complete loss of exons 9/9A22/07/13---
8381580


Biological significanceDate Comment
Causal22/07/13---