All variants in the LMNA gene

Information The variants shown are described using the NM_170707.3 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     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Owner     
./. 5 c.892C>T r.(?) p.(Arg298Cys) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution g.156105059C>T De Sandre-Giovannoli A1, Chaouch M, Kozlov S, Vallat JM, Tazir M, Kassouri N, Szepetowski P, Hammadouche T, Vandenberghe A, Stewart CL, Grid D, Lévy N.(2002) LMNA_000003 - Y Yang
./. 6 c.1378G>A r.(?) p.(Glu460Lys) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution g.156106225G>A Rudnik-Sch?neborn S1, Botzenhart E, Eggermann T, Senderek J, Schoser BG, Schr?der R, Wehnert M, Wirth B, Zerres K.(2007) LMNA_000002 - Y Yang
./. 8 c.1477C>T r.(?) p.(Gln493*) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0015 protein truncation g.156106808C>T Rudnik-Sch?neborn S1, Botzenhart E, Eggermann T, Senderek J, Schoser BG, Schr?der R, Wehnert M, Wirth B, Zerres K.(2007) LMNA_000001 - Y Yang
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