Mutations

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ToggleEditMutation = 'c.1548delT'
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Mutation
2Benign Mutations, Animal Model

1 - 1 of 1

	PosAscending	Mutation	Protein	Primary	Exon/Intron	#Patients	#Alleles
	1548	c.1548delT	p.Leu518Trpfs*5	Deletion	Exon 13	1	1

1 - 1 of 1

c.1548delT, p.Leu518Trpfs*5

The sequence variant c.1548delT in exon 13 changes the reading frame, and is, if expressed, expected to result in a truncated, non-functional protein (p.Leu518TrpfsX5).

Mutation Details

Mutation type

Deletion

Localization

Exon 13

Number of Patients

Detected

References

Riise Stensland et al. 2012

Patients w/ c.1548delT / p.Leu518Trpfs*5

1-1

PID	Gender	COB	Year of birth	Clinical subtype	Allele 1 CDNA	Allele 1 Protein	Allele 2 CDNA	Allele 2 Protein	Clinic	Affsibs
61	***	France	***	Type 1	c.598C>A	p.His200Asn	c.1548delT	p.Leu518Trpfs*5	Yes	***

1-1

Primary Mutation Type Distribution