Mutations

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ToggleEditMutation = 'c.912_913insAGGC'
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Mutation
2Benign Mutations, Animal Model

1 - 1 of 1

	PosAscending	Mutation	Protein	Primary	Exon/Intron	#Patients	#Alleles
	912	c.912_913insAGGC	p.Tyr306Profs*19	Insertion	Exon 7	1	1

1 - 1 of 1

c.912_913insAGGC, p.Tyr306Profs*19

The sequence variant c.912_913insAGGC in exon 7 changes the reading frame, and is, if expressed, expected to result in a truncated, non-functional protein (p.Tyr306ProfsX19).

NOTE: In the original manuscript, this variant was erroneously annotated as c.907_910dupCAGG in exon 6.

Mutation Details

Mutation type

Insertion

Localization

Exon 7

Number of Patients

Detected

References

Riise Stensland et al. 2012

Patients w/ c.912_913insAGGC / p.Tyr306Profs*19

1-1

PID	Gender	COB	Year of birth	Clinical subtype	Allele 1 CDNA	Allele 1 Protein	Allele 2 CDNA	Allele 2 Protein	Clinic	Affsibs
126	***	United States	***	Type 2	c.912_913insAGGC	p.Tyr306Profs*19	c.1309+1G>T	p.Val411Metfs*40	Yes	***

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Primary Mutation Type Distribution