Full data view for gene HFE

Information The variants shown are described using the NM_000410.3 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Variant/VariO/DNA     

Variant/VariO/protein     

Allele     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Template     

Technique     

Disease     

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Ethnic origin     

Remarks     

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Owner     
./. 4 c.845G>A r.(?) p.(Cys282Tyr) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution Unknown g.26093141G>A Goodall EF1, Greenway MJ, van Marion I, Carroll CB, Hardiman O, Morrison KE.(2005) HFE_000001 - ? ? ALS Goodall EF1, Greenway MJ, van Marion I, Carroll CB, Hardiman O, Morrison KE.(2005) - - 1 Y Yang
./. 4 c.845G>A r.(?) p.(Cys282Tyr) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution Unknown g.26093141G>A Sutedja NA1, Sinke RJ, Van Vught PW, Van der Linden MW, Wokke JH, Van Duijn CM, Njajou OT, Van der Schouw YT, Veldink JH, Van den Berg LH.(2007) HFE_000001 - ? ? ALS Sutedja NA1, Sinke RJ, Van Vught PW, Van der Linden MW, Wokke JH, Van Duijn CM, Njajou OT, Van der Schouw YT, Veldink JH, Van den Berg LH.(2007) Dutch - 1 Y Yang
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