The UMD-MEN1 mutations database
Mutation c.IVS6+1G>A (c.912+1G>A)


Splice site type Wild type sequence CV Mutant type sequence CV Variation (%)
Donor
AAGgtgggg
87.6 _
AAGatgggg
60.8 _ *
-30.6 %


     Data for this mutation

Complementary data about this mutation
AnalysisResult DateOriginPMID
p.causal1/01/01[Mutch and al., 1999]


Biological significanceDate Comment
5- Causal17/12/15Splicing impact:exon 6 skipping (cDNA sequencing , unpublished data)