PMID: 19759876

Analysis of HFE and non-HFE gene mutations in Brazilian patients with hemochromatosis.

Clinics (Sao Paulo, Brazil)
PL Bittencourt, ML Marin, CA Couto, EL Cançado, FJ Carrilho, AC Goldberg
2009

11 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
6-26091703-G-C HFE c.502G>C p.Glu168Gln Missense 3/6 -
6-26091167-G-A HFE c.175G>A p.Val59Met Missense 2/6 -
6-26091703-G-T HFE c.502G>T p.Glu168* Nonsense 3/6 -
6-26091582-A-T HFE c.381A>T p.Gln127His Missense 3/6 -
6-26091149-G-A HFE c.157G>A p.Val53Met Missense 2/6 -
6-26091582-A-C HFE c.381A>C p.Gln127His Missense 3/6 -
6-26091181-T-C HFE c.189T>C p.His63His Synonymous 2/6 -
6-26093144-A-C HFE c.848A>C p.Gln283Pro Missense 4/6 -
6-26091707-G-A HFE c.506G>A p.Trp169* Nonsense 3/6 -
6-26091708-G-A HFE c.507G>A p.Trp169* Nonsense 3/6 -
6-26091185-A-T HFE c.193A>T p.Ser65Cys Missense 2/6 -