Mutations

Reset Report

	PosAscending	Mutation	Protein	Primary	Exon/Intron	#Patients	#Alleles
	1915	c.1915C>T	p.Gln639*	Nonsense	Exon 15	1	1

c.1915C>T, p.Gln639*

Predicted effect at the protein level: p.Gln639* () is replaced with p.Gln639* () at amino acid position p.Gln639*
(p.p.Gln639*, p.Gln639*).

Mutation type

Nonsense

Localization

Exon 15

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
16	***	Finland	***	Type 2	c.1915C>T	p.Gln639*	c.2248C>T	p.Arg750Trp		***

1-1