All variants in the SBF2 gene

Information The variants shown are described using the NM_030962.3 transcript reference sequence.

4 entries on 1 page. Showing entries 1 - 4.
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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     
./. 14 c.1459C>T r.(?) p.(Arg487*) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0015 protein truncation g.9990029G>A Hirano R1, Takashima H, Umehara F, Arimura H, Michizono K, Okamoto Y, Nakagawa M, Boerkoel CF, Lupski JR, Osame M, Arimura K.(2004) SBF2_000003 - Y Yang
./. 22 c.2728C>T r.(?) p.(Gln910*) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0015 protein truncation g.9871648G>A Azzedine H1, Bolino A, Ta?eb T, Birouk N, Di Duca M, Bouhouche A, Benamou S, Mrabet A, Hammadouche T, Chkili T, Gouider R, Ravazzolo R, Brice A, Laporte J, LeGuern E.(2003) SBF2_000001 - Y Yang
./. 27 c.3586C>T r.(?) p.(Arg1196*) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0015 protein truncation g.9853837G>A Azzedine H1, Bolino A, Ta?eb T, Birouk N, Di Duca M, Bouhouche A, Benamou S, Mrabet A, Hammadouche T, Chkili T, Gouider R, Ravazzolo R, Brice A, Laporte J, LeGuern E.(2003) SBF2_000002 - Y Yang
./. 32i c.4443+1G>C r.spl? p.? VariO:0136 DNA substitution; VariO:0316 transversion - g.9829546C>G Conforti FL1, Muglia M, Mazzei R, Patitucci A, Valentino P, Magariello A, Sprovieri T, Bono F, Bergmann C, Gabriele AL, Peluso G, Nisticò R, Senderek J, Quattrone A.(2004) SBF2_000004 - Y Yang
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