Mutations

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ToggleEditMutation = 'c.322_323insA'
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Mutation
2Benign Mutations, Animal Model

1 - 1 of 1

	PosAscending	Mutation	Protein	Primary	Exon/Intron	#Patients	#Alleles
	322	c.322_323insA	p.Leu108Tyrfs*53	Insertion	Exon 3

1 - 1 of 1

c.322_323insA, p.Leu108Tyrfs*53

The sequence variant c.322dupAin exon 3 changes the reading frame, and is, if expressed, expected to result in a truncated, non-functional protein (p.Leu108Tyrfs*53).

Mutation Details

Mutation type

Insertion

Localization

Exon 3

Number of Patients

References

Beccari et al. 2003

Primary Mutation Type Distribution