Unique variants in the POLG gene

Information The variants shown are described using the NM_002693.2 transcript reference sequence.

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

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Variant/VariO/DNA     

Variant/VariO/protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Owner     
./. 1 1 c.32G>A r.(?) p.(Gly11Asp) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution g.89876954C>T Mehta AR1, Fox SH, Tarnopolsky M, Yoon G.(2011) POLG_000002 - Y Yang
./. 1 8 c.1550G>T r.(?) p.(Gly517Val) - - g.89870178C>A Staropoli JF et al. (2012) POLG_000003 - XY Liu
./. 1 15 c.2554C>T r.(?) p.(Arg852Cys) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution g.89865011G>A Mehta AR1, Fox SH, Tarnopolsky M, Yoon G.(2011) POLG_000001 - Y Yang
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