Full data view for gene SBF2

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

4 entries on 1 page. Showing entries 1 - 4.
Legend   How to query  

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Variant/VariO/DNA     

Variant/VariO/protein     

Allele     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Template     

Technique     

Disease     

Reference     

Ethnic origin     

Remarks     

Panel size     

Owner     
./. 14 c.1459C>T r.(?) p.(Arg487*) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0015 protein truncation Unknown 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 - ? ? HMSN Hirano R1, Takashima H, Umehara F, Arimura H, Michizono K, Okamoto Y, Nakagawa M, Boerkoel CF, Lupski JR, Osame M, Arimura K.(2004) - - 1 Y Yang
./. 22 c.2728C>T r.(?) p.(Gln910*) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0015 protein truncation Unknown 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 - ? ? HMSN 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) - - 1 Y Yang
./. 27 c.3586C>T r.(?) p.(Arg1196*) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0015 protein truncation Unknown 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 - ? ? HMSN 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) - - 1 Y Yang
./. 32i c.4443+1G>C r.spl? p.? VariO:0136 DNA substitution; VariO:0316 transversion - Unknown 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 - ? ? HMSN 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) - - 1 Y Yang
Legend   How to query