PMID: 22408404

Molecular diagnostic and pathogenesis of hereditary hemochromatosis.

International journal of molecular sciences
PC Santos, JE Krieger, AC Pereira
2012

71 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
6-7845512-A-AT BMP6 c.804_805insT p.Asn269*fs*1 Nonsense 2/7 -
2-190439943-A-T SLC40A1 c.215T>A p.Val72Asp Missense 3/8 -
6-26091582-A-C HFE c.381A>C p.Gln127His Missense 3/6 -
2-190428722-ACCC-A SLC40A1 c.988_990delGGG p.Gly330delGly InFrameDeletion 7/8 -
2-190436477-ACAA-A SLC40A1 c.485_487delTTG p.Val162delVal InFrameDeletion 5/8 -
2-190426853-T-G SLC40A1 c.1467A>C p.Arg489Ser Missense 8/8 -
2-190426853-T-A SLC40A1 c.1467A>T p.Arg489Ser Missense 8/8 -
2-190439919-C-A SLC40A1 c.239G>T p.Gly80Val Missense 3/8 -
2-190428744-C-A SLC40A1 c.968G>T p.Gly323Val Missense 7/8 -
6-7727441-T-C BMP6 c.253T>C p.Ser85Pro Missense 1/7 -
2-190436485-T-C SLC40A1 c.470A>G p.Asp157Gly Missense 5/8 -
2-190426851-C-T SLC40A1 c.1469G>A p.Gly490Asp Missense 8/8 -
2-190428700-T-G SLC40A1 c.1012A>C p.Ser338Arg Missense 7/8 -
2-190430294-C-A SLC40A1 c.546G>T p.Gln182His Missense 6/8 -
2-190430294-C-G SLC40A1 c.546G>C p.Gln182His Missense 6/8 -
6-26091582-A-T HFE c.381A>T p.Gln127His Missense 3/6 -
7-100229723-GCTG-G TFR2 c.949_951delCAG p.Gln317delGln InFrameDeletion 7/18 -
2-190430301-A-G SLC40A1 c.539T>C p.Ile180Thr Missense 6/8 -
6-26093144-A-C HFE c.848A>C p.Gln283Pro Missense 4/6 -
2-190436486-C-T SLC40A1 c.469G>A p.Asp157Asn Missense 5/8 -
2-190430308-G-C SLC40A1 c.532C>G p.Arg178Gly Missense 6/8 -
2-190444555-T-C SLC40A1 c.95A>G p.His32Arg Missense 2/8 -
6-26091306-T-C HFE c.314T>C p.Ile105Thr Missense 2/6 -
6-26091586-G-A HFE c.385G>A p.Asp129Asn Missense 3/6 -
19-35775922-TG-AC HAMP c.232_233delTGinsAC p.Cys78Thr Missense 3/3 -
7-100238705-GCTC-G TFR2 c.178_180delGAG p.Glu60delGlu InFrameDeletion 2/18 -
8-125579373-A-T MTSS1 c.665T>A p.Ile222Asn Missense 8/14 -
2-190428698-A-T SLC40A1 c.1014T>A p.Ser338Arg Missense 7/8 -
2-190428698-A-C SLC40A1 c.1014T>G p.Ser338Arg Missense 7/8 -
6-26091129-T-G HFE c.137T>G p.Leu46Trp Missense 2/6 -
7-100226936-C-T TFR2 c.1330G>A p.Ala444Thr Missense 10/18 -
7-100224453-T-G TFR2 c.2069A>C p.Gln690Pro Missense 17/18 -
6-26093443-G-T HFE c.989G>T p.Arg330Met Missense 5/6 -
6-26093139-G-A HFE c.843G>A p.Thr281Thr Synonymous 4/6 -
6-26093125-G-A HFE c.829G>A p.Glu277Lys Missense 4/6 -
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 -
2-190428912-C-T SLC40A1 c.800G>A p.Gly267Asp Missense 7/8 -
6-26091749-T-C HFE c.548T>C p.Leu183Pro Missense 3/6 -
19-35775749-A-AA HAMP c.148dupA - SpliceDonorInsertion 2/3 -
2-190439895-C-G SLC40A1 c.263G>C p.Arg88Thr Missense 3/8 -
2-190428735-C-G SLC40A1 c.977G>C p.Cys326Ser Missense 7/8 -
2-190428735-C-T SLC40A1 c.977G>A p.Cys326Tyr Missense 7/8 -
7-100238467-CTCG-C TFR2 c.313_315delCGA p.Arg105delArg InFrameDeletion 3/18 -
19-35775856-GCGA-G HAMP c.166_168delCGA p.Arg59delArg InFrameDeletion 3/3 -
19-35775898-T-C HAMP c.208T>C p.Cys70Arg Missense 3/3 -
2-190436525-T-G SLC40A1 c.430A>C p.Asn144His Missense 5/8 -
7-100226902-C-T TFR2 c.1364G>A p.Arg455Gln Missense 10/18 -
6-26093146-G-A HFE c.850G>A p.Val284Met Missense 4/6 -
6-26091703-G-C HFE c.502G>C p.Glu168Gln Missense 3/6 -
19-35775902-G-A HAMP c.212G>A p.Gly71Asp Missense 3/3 -
2-190430298-T-A SLC40A1 c.542A>T p.Asp181Val Missense 6/8 -
2-190430287-T-C SLC40A1 c.553A>G p.Asn185Asp Missense 6/8 -
2-190428736-A-T SLC40A1 c.976T>A p.Cys326Ser Missense 7/8 -
7-100230725-TAGT-T TFR2 c.748_750delTAC p.Tyr250delTyr InFrameDeletion 6/18 -
7-100225851-A-C TFR2 c.1469T>G p.Leu490Arg Missense 11/18 -
7-100228595-TCGT-T TFR2 c.1187_1189delGAC p.Arg396delArg InFrameDeletion 9/18 -
6-26091269-G-C HFE c.277G>C p.Gly93Arg Missense 2/6 -
19-35775865-C-G HAMP c.175C>G p.Arg59Gly Missense 3/3 -
2-190439928-G-T SLC40A1 c.230C>A p.Ala77Asp Missense 3/8 -
2-190430319-T-A SLC40A1 c.521A>T p.Asn174Ile Missense 6/8 -
2-190430096-C-A SLC40A1 c.744G>T p.Gln248His Missense 6/8 -
7-100218512-C-G TFR2 c.2374G>C p.Gly792Arg Missense 18/18 -
2-190426851-C-A SLC40A1 c.1469G>T p.Gly490Val Missense 8/8 -
7-100218512-C-T TFR2 c.2374G>A p.Gly792Arg Missense 18/18 -
6-26091269-G-A HFE c.277G>A p.Gly93Arg Missense 2/6 -
6-26091120-G-C HFE c.128G>C p.Gly43Ala Missense 2/6 -
7-100238788-G-T TFR2 c.97C>A p.His33Asn Missense 2/18 -
6-26091703-GGAG-G HFE c.502_504delGAG p.Glu168delGlu InFrameDeletion 3/6 -
2-190439968-A-T SLC40A1 c.190T>A p.Tyr64Asn Missense 3/8 -
6-26091149-G-A HFE c.157G>A p.Val53Met Missense 2/6 -