4.5 Duplication Mutations « Birt-Hogg-Dubé Syndrome

4.5 Duplication Mutations

All eight duplication mutations are pathogenic and result in a frameshift.

Exon	DNA Change	Remarks	Reference
5	c.347dupA	Frameshift	Toro et al., 2008. J Med Genet 45:321-31.
7	c.655dupG	Frameshift	Leter et al., 2007. J Invest Dermatol 128:45-49.
9	c.923_950dup (reported 5 times)	Frameshift	Toro et al., 2008. J Med Genet 45:321-31.
11	c.1285dupC (reported 14 times)	Frameshift	Toro et al., 2008. J Med Genet 45:321-31.
11	c.1286dupA	Frameshift	Toro et al., 2008. J Med Genet 45:321-31.
12	c.1335_1351dup	Frameshift	Woodward et al., 2008. Clin Cancer Res 14:5925-30.
12	c.1426dupG	Frameshift	Schmidt et al., 2005. Am J Hum Genet 76:1023-33.
13	c.1487_1490dup	Frameshift	Schmidt et al., 2005. Am J Hum Genet 76:1023-33.

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