Mutations

Reset Report

	PosAscending	Mutation	Protein	Primary	Exon/Intron	#Patients	#Alleles
	241	c.241delG	p.Val81Trpfs*76	Deletion	Exon 2	1	1

c.241delG, p.Val81Trpfs*76

The sequence variant changes the reading frame, and is, if expressed, expected to result in a truncated, non-functional protein (p.Val81TrpfsX76).

Mutation type

Deletion

Localization

Exon 2

Number of Patients

Detected

1-1

PID	Gender	COB	Year of birth	Clinical subtype	Allele 1 CDNA	Allele 1 Protein	Allele 2 CDNA	Allele 2 Protein	Clinic	Affsibs
135	***	United Kingdom	***		c.241delG	p.Val81Trpfs*76	c.1383C>A	p.Tyr461*		***

1-1