Mutations

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ToggleEditMutation = 'c.2332_2335delGTCA'
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Mutation
2Benign Mutations, Animal Model

1 - 1 of 1

	PosAscending	Mutation	Protein	Primary	Exon/Intron	#Patients	#Alleles
	2332	c.2332_2335delGTCA	p.Val778Thrfs*13	Deletion	Exon 19	1	2

1 - 1 of 1

c.2332_2335delGTCA, p.Val778Thrfs*13

The sequence variant c.2332_2335delGTCA in exon 19 changes the reading frame, and is, if expressed, expected to result in a truncated, non-functional protein (p.Val778ThrfsX13).

Mutation Details

Mutation type

Deletion

Localization

Exon 19

Number of Patients

Detected

References

Riise Stensland et al. 2012

Patients w/ c.2332_2335delGTCA / p.Val778Thrfs*13

1-1

PID	Gender	COB	Year of birth	Clinical subtype	Allele 1 CDNA	Allele 1 Protein	Allele 2 CDNA	Allele 2 Protein	Clinic	Affsibs
4	***	Italy	***	Type 2	c.2332_2335delGTCA	p.Val778Thrfs*13	c.2332_2335delGTCA	p.Val778Thrfs*13	Yes	***

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Primary Mutation Type Distribution