PMID: 24653703

Molecular basis of HFE-hemochromatosis.

Frontiers in pharmacology
M Vujić
2014

9 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
6-26091582-A-C HFE c.381A>C p.Gln127His Missense 3/6 -
6-26091582-A-T HFE c.381A>T p.Gln127His Missense 3/6 -
6-26091181-T-C HFE c.189T>C p.His63His Synonymous 2/6 -
6-26091703-G-C HFE c.502G>C p.Glu168Gln Missense 3/6 -
6-26093144-A-C HFE c.848A>C p.Gln283Pro Missense 4/6 -
6-26091185-A-T HFE c.193A>T p.Ser65Cys Missense 2/6 -
6-26091703-G-T HFE c.502G>T p.Glu168* Nonsense 3/6 -
6-26091149-G-A HFE c.157G>A p.Val53Met Missense 2/6 -
6-26091167-G-A HFE c.175G>A p.Val59Met Missense 2/6 -