Full data view for gene MFN2

Information The variants shown are described using the NM_014874.3 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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AscendingDNA change (cDNA)     

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DNA change (genomic) (hg19)     

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./. 11 c.1090C>T r.(?) p.(Arg364Trp) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution Unknown g.12062090C>T Züchner S1, De Jonghe P, Jordanova A, Claeys KG, Guergueltcheva V, Cherninkova S, Hamilton SR, Van Stavern G, Krajewski KM, Stajich J, Tournev I, Verhoeven K, Langerhorst CT, de Visser M, Baas F, Bird T, Timmerman V, Shy M, Vance JM(2006) MFN2_000020 - ? ? HMSN "Züchner S1, De Jonghe P, Jordanova A, Claeys KG, Guergueltcheva V, Cherninkova S, Hamilton SR, Van Stavern G, Krajewski KM, Stajich J, Tournev I, Verhoeven K, Langerhorst CT(2006) - - 1 Y Yang
./. 11 c.1090C>T r.(?) p.(Arg364Trp) - - Unknown g.12062090C>T Gowrisankaran S et al. (2011) MFN2_000020 - ? ? HMSN Gowrisankaran S et al. (2011) - - 1 XY Liu
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