Full data view for gene MTMR2

Information The variants shown are described using the NM_016156.5 transcript reference sequence.

6 entries on 1 page. Showing entries 1 - 6.
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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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./. 9 c.826G>T r.(?) p.(Glu276*) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0015 protein truncation Unknown g.95583005C>A Bolino A1, Muglia M, Conforti FL, LeGuern E, Salih MA, Georgiou DM, Christodoulou K, Hausmanowa-Petrusewicz I, Mandich P, Schenone A, Gambardella A, Bono F, Quattrone A, Devoto M, Monaco AP.(2000) MTMR2_000002 - ? ? HMSN "Bolino A1, Muglia M, Conforti FL, LeGuern E, Salih MA, Georgiou DM, Christodoulou K, Hausmanowa-Petrusewicz I, Mandich P, Schenone A, Gambardella A, Bono F, Quattrone A(2000) - - 1 Y Yang
./. 10i c.1179+1G>A r.spl? p.? VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition - Unknown g.95580877C>T Bolino A1, Muglia M, Conforti FL, LeGuern E, Salih MA, Georgiou DM, Christodoulou K, Hausmanowa-Petrusewicz I, Mandich P, Schenone A, Gambardella A, Bono F, Quattrone A, Devoto M, Monaco AP.(2000) MTMR2_000006 - ? ? HMSN "Bolino A1, Muglia M, Conforti FL, LeGuern E, Salih MA, Georgiou DM, Christodoulou K, Hausmanowa-Petrusewicz I, Mandich P, Schenone A, Gambardella A, Bono F, Quattrone A(2000) - - 1 Y Yang
./. 11 c.1276C>T r.(?) p.(Gln426*) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0015 protein truncation Unknown g.95578227G>A Bolino A1, Muglia M, Conforti FL, LeGuern E, Salih MA, Georgiou DM, Christodoulou K, Hausmanowa-Petrusewicz I, Mandich P, Schenone A, Gambardella A, Bono F, Quattrone A, Devoto M, Monaco AP.(2000) MTMR2_000001 - ? ? HMSN "Bolino A1, Muglia M, Conforti FL, LeGuern E, Salih MA, Georgiou DM, Christodoulou K, Hausmanowa-Petrusewicz I, Mandich P, Schenone A, Gambardella A, Bono F, Quattrone A(2000) - - 1 Y Yang
./. 12 c.1444C>T r.(?) p.(Gln482*) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0015 protein truncation Unknown g.95574816G>A Bolino A1, Muglia M, Conforti FL, LeGuern E, Salih MA, Georgiou DM, Christodoulou K, Hausmanowa-Petrusewicz I, Mandich P, Schenone A, Gambardella A, Bono F, Quattrone A, Devoto M, Monaco AP.(2000) MTMR2_000003 - ? ? HMSN "Bolino A1, Muglia M, Conforti FL, LeGuern E, Salih MA, Georgiou DM, Christodoulou K, Hausmanowa-Petrusewicz I, Mandich P, Schenone A, Gambardella A, Bono F, Quattrone A(2000) - - 1 Y Yang
./. 14 c.1736_1737insGG r.(?) p.(Tyr579*) VariO:0142 DNA insertion VariO:0015 protein truncation Unknown g.95569345_95569346insCC Bolino A1, Muglia M, Conforti FL, LeGuern E, Salih MA, Georgiou DM, Christodoulou K, Hausmanowa-Petrusewicz I, Mandich P, Schenone A, Gambardella A, Bono F, Quattrone A, Devoto M, Monaco AP.(2000) MTMR2_000004 - ? ? HMSN "Bolino A1, Muglia M, Conforti FL, LeGuern E, Salih MA, Georgiou DM, Christodoulou K, Hausmanowa-Petrusewicz I, Mandich P, Schenone A, Gambardella A, Bono F, Quattrone A(2000) - - 1 Y Yang
./. 14 c.1736_1745del10 r.(?) p.(Tyr579Cysfs*6) VariO:0141 DNA deletion VariO:0023 amphigoric amino acid indel Unknown g.95569337_95569346del10 Bolino A1, Muglia M, Conforti FL, LeGuern E, Salih MA, Georgiou DM, Christodoulou K, Hausmanowa-Petrusewicz I, Mandich P, Schenone A, Gambardella A, Bono F, Quattrone A, Devoto M, Monaco AP.(2000) MTMR2_000005 - ? ? HMSN "Bolino A1, Muglia M, Conforti FL, LeGuern E, Salih MA, Georgiou DM, Christodoulou K, Hausmanowa-Petrusewicz I, Mandich P, Schenone A, Gambardella A, Bono F, Quattrone A(2000) - - 1 Y Yang
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