PMID: 21228038

Iron overload in HFE C282Y heterozygotes at first genetic testing: a strategy for identifying rare HFE variants.

Haematologica

P Aguilar-Martinez, B Grandchamp, S Cunat, E Cadet, F Blanc, M Nourrit, K Lassoued, JF Schved, J Rochette

2011-04

7 variants were identified in this publication

Variant ID	Gene	cDNA	Protein	Consequence	Exon	Intron
6-26093144-A-C	HFE	c.848A>C	p.Gln283Pro	Missense	4/6	-
6-26091332-G-A	HFE	c.340G>A	p.Glu114Lys	Missense	2/6	-
6-26091749-T-C	HFE	c.548T>C	p.Leu183Pro	Missense	3/6	-
6-26091185-A-T	HFE	c.193A>T	p.Ser65Cys	Missense	2/6	-
6-26091188-C-T	HFE	c.196C>T	p.Arg66Cys	Missense	2/6	-
6-26094429-CACTACGTCTTAGC-C	HFE	c.1022_1034del13	p.His341Leufs*119	Frameshift	6/6	-
6-26091191-C-T	HFE	c.199C>T	p.Arg67Cys	Missense	2/6	-