PMID: 27177411

Detection of a rare mutation in the ferroportin gene through targeted next generation sequencing.

Blood transfusion = Trasfusione del sangue
L Ferbo, PM Manzini, S Badar, N Campostrini, A Ferrarini, M Delledonne, T Francisci, V Tassi, A Valfrè, AM Dall'omo, S D'antico, D Girelli, A Roetto, M De Gobbi
2016-11

16 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
6-26091181-T-C HFE c.189T>C p.His63His Synonymous 2/6 -
2-190436477-ACAA-A SLC40A1 c.485_487delTTG p.Val162delVal InFrameDeletion 5/8 -
7-100230723-G-C TFR2 c.750C>G p.Tyr250* Nonsense 6/18 -
6-26091708-G-A HFE c.507G>A p.Trp169* Nonsense 3/6 -
2-190439953-C-T SLC40A1 c.205G>A p.Ala69Thr Missense 3/8 -
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 -
6-26091185-A-T HFE c.193A>T p.Ser65Cys Missense 2/6 -
7-100231138-A-T TFR2 c.515T>A p.Met172Lys Missense 4/18 -
7-100230723-G-T TFR2 c.750C>A p.Tyr250* Nonsense 6/18 -
6-26091149-G-A HFE c.157G>A p.Val53Met Missense 2/6 -
7-100238707-C-A TFR2 c.178G>T p.Glu60* Nonsense 2/18 -
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 -
2-190436525-T-G SLC40A1 c.430A>C p.Asn144His Missense 5/8 -