4.7 Insertion Mutations

One insertion mutation of unknown pathogenicity has been reported in exon 12 and results in a frameshift.

Exon

DNA Change

Remarks

Reference

12

c.1340_1341ins7

Frameshift

Gunji et al., 2007. J Med Genet 44:588-593.

Quick Links:

Back to: Contents

Backwards to: 4.6  Indel Mutations

Forwards to: 5. Folliculin expression

References