Mutations

Reset Report

Report Settings

ToggleEditMutation = 'c.2299C>T'

Mutation

1 - 1 of 1

	PosAscending	Mutation	Protein	Primary	Exon/Intron	#Patients	#Alleles
	2299	c.2299C>T	p.Gln767*	Nonsense	Exon 19	4	6

1 - 1 of 1

c.2299C>T, p.Gln767*

The sequence variant c.2299C>T in exon 19 introduces a premature stop codon, and is, if expressed, expected to result in a truncated, non-functional protein (p.Gln767X).

Mutation Details

Mutation type

Nonsense

Localization

Exon 19

Number of Patients

Detected

References

Riise Stensland et al. 2012

Patients w/ c.2299C>T / p.Gln767*

1-4

PID	Gender	COB	Year of birth	Clinical subtype	Allele 1 CDNA	Allele 1 Protein	Allele 2 CDNA	Allele 2 Protein	Clinic	Affsibs
37	***	Finland	***	Type 2	c.2299C>T	p.Gln767*	c.2299C>T	p.Gln767*		***
38	***	Finland	***	Type 2	c.2299C>T	p.Gln767*	c.2299C>T	p.Gln767*		***
41	***	Finland	***		c.2248C>T	p.Arg750Trp	c.2299C>T	p.Gln767*		***
179	***	Finland	***	Type 2	c.2248C>T	p.Arg750Trp	c.2299C>T	p.Gln767*	Yes	***

1-4

Primary Mutation Type Distribution