Mutations

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ToggleEditMutation = 'c.2660delC'
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Mutation
2Benign Mutations, Animal Model

1 - 1 of 1

	PosAscending	Mutation	Protein	Primary	Exon/Intron	#Patients	#Alleles
	2660	c.2660delC	p.Thr887Serfs*45	Deletion	Exon 22

1 - 1 of 1

c.2660delC, p.Thr887Serfs*45

The sequence variant c.2660delC in exon 22 changes the reading frame, and is, if expressed, expected to result in a truncated, non-functional protein (p.(Thr887Serfs*45)).

Mutation Details

Mutation type

Deletion

Localization

Exon 22

Number of Patients

References

Pittis et al. 2007

Primary Mutation Type Distribution