Full data view for gene FUS

Information The variants shown are described using the NM_004960.3 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)     

Reference     

DB-ID     

Frequency     

Template     

Technique     

Disease     

Reference     

Ethnic origin     

Remarks     

Panel size     

Owner     
./. 15 c.1542G>T r.(?) p.(Arg514Ser) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.31202720G>T Kwiatkowski TJ Jr1, Bosco DA, Leclerc AL, Tamrazian E, Vanderburg CR, Russ C, Davis A, Gilchrist J, Kasarskis EJ, Munsat T, Valdmanis P, Rouleau GA, Hosler BA, Cortelli P, de Jong PJ, Yoshinaga Y, Haines JL, Pericak-Vance MA, Yan J(2009) FUS_000003 - ? ? ALS "Kwiatkowski TJ Jr1, Bosco DA, Leclerc AL, Tamrazian E, Vanderburg CR, Russ C, Davis A, Gilchrist J, Kasarskis EJ, Munsat T, Valdmanis P, Rouleau GA, Hosler BA, Cortelli P(2009) - - 1 Y Yang
./. 15 c.1542G>T r.(?) p.(Arg514Ser) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.31202720G>T Robertson J1, Bilbao J, Zinman L, Hazrati LN, Tokuhiro S, Sato C, Moreno D, Strome R, Mackenzie IR, Rogaeva E.(2011) FUS_000003 - ? ? ALS Robertson J1, Bilbao J, Zinman L, Hazrati LN, Tokuhiro S, Sato C, Moreno D, Strome R, Mackenzie IR, Rogaeva E.(2011) - - 1 Y Yang
./. 15 c.1542G>T r.(?) p.(Arg514Ser) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.31202720G>T Yamashita S1, Mori A, Sakaguchi H, Suga T, Ishihara D, Ueda A, Yamashita T, Maeda Y, Uchino M, Hirano T.(2012) FUS_000003 - ? ? ALS Yamashita S1, Mori A, Sakaguchi H, Suga T, Ishihara D, Ueda A, Yamashita T, Maeda Y, Uchino M, Hirano T.(2012) - - 1 Y Yang
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