Mutations

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ToggleEditProtein contains 'p.His350Profs*15'

Protein

1 - 1 of 1

	PosAscending	Mutation	Protein	Primary	Exon/Intron	#Patients	#Alleles
	1047	c.1047_1048dupCC	p.His350Profs*15	Duplication	Exon 8

1 - 1 of 1

c.1047_1048dupCC, p.His350Profs*15

The sequence variant c.1047_1048dupCC in exon 1 changes the reading frame, and is, if expressed, expected to result in a truncated, non-functional protein (p.His350Profs*15).

Mutation Details

Mutation type

Duplication

Localization

Exon 8

Number of Patients

References

Borgwardt et al. 2015

Primary Mutation Type Distribution