Full data view for gene CHMP2B

Information The variants shown are described using the NM_014043.3 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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DB-ID     

Frequency     

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Technique     

Disease     

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Owner     
./. 2 c.85A>G r.(?) p.(Ile29Val) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution Unknown g.87289899A>G Parkinson N1, Ince PG, Smith MO, Highley R, Skibinski G, Andersen PM, Morrison KE, Pall HS, Hardiman O, Collinge J, Shaw PJ, Fisher EM; MRC Proteomics in ALS Study; FReJA Consortium.(2006) CHMP2B_000001 - ? ? ALS "Parkinson N1, Ince PG, Smith MO, Highley R, Skibinski G, Andersen PM, Morrison KE, Pall HS, Hardiman O, Collinge J, Shaw PJ(2006) - - 1 Y Yang
./. 2 c.85A>G r.(?) p.(Ile29Val) - - Unknown g.87289899A>G Isaacs AM et al.(2011) CHMP2B_000001 - ? ? FTLD Isaacs AM et al.(2011) - - 1 XY Liu
+/. 2 c.85A>G r.(85a>g) p.(Ile29Val) - - Unknown g.87289899A>G Laura E Cox, Laura Ferraiuolo, Emily F Goodall, et al. CHMP2B_000001 - ? ? ALS Laura E Cox, Laura Ferraiuolo, Emily F Goodall, et al. English - 1 XY Liu
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