Full data view for gene HFE

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

3 entries on 1 page. Showing entries 1 - 3.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Variant/VariO/DNA     

Variant/VariO/protein     

Allele     

DNA change (genomic) (hg19)     

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Technique     

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./. 2 c.187C>G r.(?) p.(His63Asp) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.26091179C>G Goodall EF1, Greenway MJ, van Marion I, Carroll CB, Hardiman O, Morrison KE.(2005) HFE_000002 - ? ? ALS Goodall EF1, Greenway MJ, van Marion I, Carroll CB, Hardiman O, Morrison KE.(2005) - - 1 Y Yang
./. 2 c.187C>G r.(?) p.(His63Asp) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.26091179C>G 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_000002 - ? ? 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
./. 2 c.187C>G r.(?) p.(His63Asp) - - Unknown g.26091179C>G Gazzina S et al. (2016) HFE_000002 - ? ? AD Gazzina S et al. (2016) - Risk loci 1 XY Liu
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