Mutations

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ToggleEditMutation = 'c.1152_1153dupCC'

Mutation

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	PosAscending	Mutation	Protein	Primary	Exon/Intron	#Patients	#Alleles
	1152	c.1152_1153dupCC	p.His385Profs*93	Duplication	Exon 9	3	4

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c.1152_1153dupCC, p.His385Profs*93

The sequence variant c.1152_1153dupCC in exon 9 changes the reading frame, and is, if expressed, expected to result in a truncated, non-functional protein (p.His385ProfsX93).

Mutation Details

Mutation type

Duplication

Localization

Exon 9

Number of Patients

Detected

References

Berg et al. 1999

Patients w/ c.1152_1153dupCC / p.His385Profs*93

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PID	Gender	COB	Year of birth	Clinical subtype	Allele 1 CDNA	Allele 1 Protein	Allele 2 CDNA	Allele 2 Protein	Clinic	Affsibs
7	***	Norway	***	Type 2	c.1152_1153dupCC	p.His385Profs*93	c.1831-2A>G	p.His611Glyfs*3	Yes	***
8	***	Norway	***	Type 2	c.1152_1153dupCC	p.His385Profs*93	c.1831-2A>G	p.His611Glyfs*3	Yes	***
11	***	Norway	***	Type 2	c.1152_1153dupCC	p.His385Profs*93	c.1152_1153dupCC	p.His385Profs*93	Yes	***

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Primary Mutation Type Distribution