HAEdb - C1 inhibitor gene mutation database


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Owner:	tosi-lab	Position:	intron 2	HAEUID:	16
Nucleotide change			Protein change
Traditional:	642G>A		Traditional:	splicing defect
HUGO:	g.1824G>A		HUGO:	p.-
CDS:	c.51+5G>A		Effect:	pathogenic
Reference:	Verpy et al. (Am J Hum Genet 1996 Aug;59(2):308-19)
Family history:		positive	No. of cases:		0
Notes:	Method: FAMA followed by sequencing Mutation affects position +5 of donor site. Strongly reduced splicing of exon 2 was demonstrated by in vitro mutagenesis of Minigene and cell transfection (unpublished)