PMID: 23018356

Iranian hereditary hemochromatosis patients: baseline characteristics, laboratory data and gene mutations.

Medical science monitor : international medical journal of experimental and clinical research
F Zamani, Z Bagheri, M Bayat, SM Fereshtehnejad, A Basi, H Najmabadi, H Ajdarkosh
2012-10

16 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
7-100231138-A-T TFR2 c.515T>A p.Met172Lys Missense 4/18 -
6-26091185-A-T HFE c.193A>T p.Ser65Cys Missense 2/6 -
7-100230723-G-T TFR2 c.750C>A p.Tyr250* Nonsense 6/18 -
7-100238707-C-A TFR2 c.178G>T p.Glu60* Nonsense 2/18 -
6-26091167-G-A HFE c.175G>A p.Val59Met Missense 2/6 -
2-190436525-T-G SLC40A1 c.430A>C p.Asn144His Missense 5/8 -
6-26091149-G-A HFE c.157G>A p.Val53Met Missense 2/6 -
6-26091703-G-T HFE c.502G>T p.Glu168* Nonsense 3/6 -
6-26091582-A-C HFE c.381A>C p.Gln127His Missense 3/6 -
6-26093144-A-C HFE c.848A>C p.Gln283Pro Missense 4/6 -
7-100230723-G-C TFR2 c.750C>G p.Tyr250* Nonsense 6/18 -
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 -
6-26091185-AG-GA HFE c.193_194delAGinsGA p.Ser65Asp Missense 2/6 -
6-26091708-G-A HFE c.507G>A p.Trp169* Nonsense 3/6 -
6-26091707-G-A HFE c.506G>A p.Trp169* Nonsense 3/6 -