All variants in the SPG11 gene

Information The variants shown are described using the NM_025137.3 transcript reference sequence.

11 entries on 1 page. Showing entries 1 - 11.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Owner     
?/. 1 c.118C>T r.(?) p.(Gln40*) g.44955728G>A Antonio Orlacchio, Carla Babalini, Antonella Borreca, Clarice Patrono, et al. SPG11_000001 - XY Liu
?/. 2 c.267G>A r.(?) p.(Trp89*) g.44952805C>T Antonio Orlacchio, Carla Babalini, Antonella Borreca, Clarice Patrono, et al. SPG11_000002 - XY Liu
?/. 4 c.733_734del r.(?) p.(Met245Valfs*2) g.44949428_44949429del Antonio Orlacchio, Carla Babalini, Antonella Borreca, Clarice Patrono, et al. SPG11_000003 - XY Liu
?/. 11 c.2198T>G r.(?) p.(Leu733*) g.44918575A>C Antonio Orlacchio, Carla Babalini, Antonella Borreca, Clarice Patrono, et al. SPG11_000005 - XY Liu
?/. 14 c.2608A>G r.(?) p.(Ile870Val) g.44913969T>C Antonio Orlacchio, Carla Babalini, Antonella Borreca, Clarice Patrono, et al. SPG11_000006 - XY Liu
?/. 26 c.4461_4462del r.(?) p.(Val1488Leufs*13) g.44887630_44887631del Antonio Orlacchio, Carla Babalini, Antonella Borreca, Clarice Patrono, et al. SPG11_000007 - XY Liu
?/. 30i c.5866+1G>A r.spl? p.(exon 31 skipping) g.44876011C>T Antonio Orlacchio, Carla Babalini, Antonella Borreca, Clarice Patrono, et al. SPG11_000008 - XY Liu
?/. 31 c.5970C>G r.(?) p.(Tyr1990*) g.44867136G>C Antonio Orlacchio, Carla Babalini, Antonella Borreca, Clarice Patrono, et al. SPG11_000009 - XY Liu
?/. 31 c.5974C>T r.(?) p.(Arg1992*) g.44867132G>A Antonio Orlacchio, Carla Babalini, Antonella Borreca, Clarice Patrono, et al. SPG11_000004 - XY Liu
?/. 32 c.6157G>A r.(?) p.(Val2053Met) g.44865793C>T Antonio Orlacchio, Carla Babalini, Antonella Borreca, Clarice Patrono, et al. SPG11_000010 - XY Liu
?/. 39 c.7029_7030insT r.(?) p.(Val2344Cysfs*6) g.44856866_44856867insA Antonio Orlacchio, Carla Babalini, Antonella Borreca, Clarice Patrono, et al. SPG11_000011 - XY Liu
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