Mutations

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ToggleEditMutation = 'c.1197dupA'
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Mutation
2Benign Mutations, Animal Model

1 - 1 of 1

	PosAscending	Mutation	Protein	Primary	Exon/Intron	#Patients	#Alleles
	1197	c.1197dupA	p.Arg400Thrfs*39	Duplication	Exon 9	1	2

1 - 1 of 1

c.1197dupA, p.Arg400Thrfs*39

The sequence variant c.1197dupA in exon 9 changes the reading frame, and is, if expressed, expected to result in a truncated, non-functional protein (p.Arg400ThrfsX39).

Mutation Details

Mutation type

Duplication

Localization

Exon 9

Number of Patients

Detected

References

Frostad Riise et al. 1999

Patients w/ c.1197dupA / p.Arg400Thrfs*39

1-1

PID	Gender	COB	Year of birth	Clinical subtype	Allele 1 CDNA	Allele 1 Protein	Allele 2 CDNA	Allele 2 Protein	Clinic	Affsibs
47	***	United States	***		c.1197dupA	p.Arg400Thrfs*39	c.1197dupA	p.Arg400Thrfs*39		***

1-1

Primary Mutation Type Distribution