The UMD-MEN1 mutations database
Mutation c.IVS7+5G>A (c.1049+5G>A)


Splice site type Wild type sequence CV Mutant type sequence CV Variation (%)
Donor
GGAgtgagg
79.7 _
GGAgtgaag
67.5 _ *
-15.3 %


     Data for this mutation

Complementary data about this mutation
AnalysisResult DateOriginPMID
p.causal 1/01/01[Roijers and al., 2000]


Biological significanceDate Comment
4- Likely Causal17/12/15Splicing impact: exon 7 skipping (cDNA sequencing , unpublished data