Unique variants in the FGD4 gene

Information The variants shown are described using the NM_139241.2 transcript reference sequence.

7 entries on 1 page. Showing entries 1 - 7.
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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 5 c.670C>T r.(?) p.(Arg224*) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0015 protein truncation g.32751500C>T Stendel C1, Roos A, Deconinck T, Pereira J, Castagner F, Niemann A, Kirschner J(2007) FGD4_000001 - Y Yang
./. 1 6 c.823C>T r.(?) p.(Arg275*) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0015 protein truncation g.32754344C>T Houlden H1, Hammans S, Katifi H, Reilly MM.(2009) FGD4_000005 - Y Yang
./. 1 7 c.893T>C r.(?) p.(Met298Thr) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution g.32755151T>C 1 more item FGD4_000004 - Y Yang
./. 1 7 c.893T>G r.(?) p.(Met298Arg) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution g.32755151T>G 1 more item FGD4_000002 - Y Yang
./. 1 13 c.1626_1627delAG r.(?) p.(Glu543Glyfs*5) VariO:0141 DNA deletion VariO:0023 amphigoric amino acid indel g.32777993_32777994delAG Stendel C1, Roos A, Deconinck T, Pereira J, Castagner F, Niemann A, Kirschner J(2007) FGD4_000006 - Y Yang
./. 1 14 c.1756G>T r.(?) p.(Gly586*) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0015 protein truncation g.32778708G>T 1 more item FGD4_000003 - Y Yang
./. 1 14i c.1762-2A>G r.spl? p.? VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition - g.32786481A>G 1 more item FGD4_000007 - Y Yang
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