Unique variants in the GDAP1 gene

Information The variants shown are described using the NM_018972.2 transcript reference sequence.

15 entries on 1 page. Showing entries 1 - 15.
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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.92G>A r.(?) p.(Trp31*) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0015 protein truncation g.75262788G>A 1 more item GDAP1_000001 - Y Yang
./. 1 2 c.349_350insT r.(?) p.(Tyr117Leufs*13) VariO:0142 DNA insertion VariO:0023 amphigoric amino acid indel g.75272410_75272411insT 1 more item GDAP1_000013 - Y Yang
./. 1 3 c.358C>T r.(?) p.(Arg120Trp) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution g.75272419C>T 1 more item GDAP1_000006 - Y Yang
./. 1 3 c.469A>C r.(?) p.(Thr157Pro) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution g.75272530A>C 1 more item GDAP1_000007 - Y Yang
./. 1 3 c.482G>A r.(?) p.(Arg161His) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution g.75272543G>A 1 more item GDAP1_000003 - Y Yang
./. 2 4 c.487C>T r.(?) p.(Gln163*) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0015 protein truncation g.75274121C>T Martin AM et al. (2015), 1 more item GDAP1_000004 - Y Yang, XY Liu
./. 1 4i c.579+1G>A r.spl? p.? VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition - g.75274214G>A 1 more item GDAP1_000014 - Y Yang
./. 1 5 c.581C>A r.(?) p.(Ser194*) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0015 protein truncation g.75275175C>A 1 more item GDAP1_000002 - Y Yang
./. 1 5 c.652C>G r.(?) p.(Gln218Glu) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution g.75275246C>G 1 more item GDAP1_000009 - Y Yang
./. 1 5 c.678A>T r.(?) p.(Arg226Ser) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution g.75275272A>T 1 more item GDAP1_000012 - Y Yang
./. 1 5 c.692C>T r.(?) p.(Pro231Leu) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution g.75275286C>T Xin B1, Puffenberger E, Nye L, Wiznitzer M, Wang H.(2008) GDAP1_000010 - Y Yang
./. 1 6 c.715C>T r.(?) p.(Leu239Phe) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution g.75276240C>T 1 more item GDAP1_000008 - Y Yang
./. 1 6 c.719G>A r.(?) p.(Cys240Tyr) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution g.75276244G>A 1 more item GDAP1_000011 - Y Yang
./. 1 6 c.844C>T r.(?) p.(Arg282Cys) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution g.75276369C>T 1 more item GDAP1_000005 - Y Yang
./. 1 6 c.863_864insT r.(?) p.(Phe289Ilefs*2) VariO:0142 DNA insertion VariO:0023 amphigoric amino acid indel g.75276388_75276389insT 1 more item GDAP1_000015 - Y Yang
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