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 -