The UMD-APC mutations database
Mutation c.IVS6-3C>G (c.730-3C>G)


Splice site type Wild type sequence CV Mutant type sequence CV Variation (%)
Acceptor
ccatcttaacagAG
84.8 _
ccatcttaagagAG
74.5 _ *
-12.1 %


     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-068---1122P-----
10_APC-068---824P-----
10_APC-085---988P-----
10_APC-85---2392P-----
10_APC-85---2395P-----
10_APC-85---3485 P-----
37_P08.137303--------

Complementary data about this mutation
AnalysisResult DateOriginPMID/dbSNP
In vitro analysisRT-PCR: Complete loss of exon 722/07/1319


Biological significanceDate Comment
Causal22/07/13---