All transcript variants in gene GLE1

Information The variants shown are described using the NM_001003722.1 transcript reference sequence.

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

Exon     

AscendingDNA change (cDNA)     

Class.     

RNA change     

Protein     

Predict/PolyPhen     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

dbSNP ID     

Germline/Somatic/De novo     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+/+ 1 c.209C>A - r.(?) p.(Ser70*) - g.131271264C>A - - - GLE1_000005 One patient with ALS (het) PubMed: Kaneb et al. 2015 - Germline yes 0/960 controls - 0 - Anne Polvi
+/+ i3 c.433-10A>G - r.[433-10_433ins;433-10a>g] p.Thr144_Glu145insProPheGln - g.131284937A>G - c.432-10A>G - GLE1_000001 Finnish Major mutation: 52 Finnish LCCS1 patients (51 hom and 1 com-het) and 12 Finnish LAAHD patients (com-het). PubMed: Nousiainen et al. 2008 - SUMMARY record yes 1/200 FIN (het) - 0 - Anne Polvi
+?/. 4 c.581G>A Likely Pathogenic r.(?) p.(Ser194Asn) Probably damaging g.131285095G>A - - - GLE1_000008 - - - Germline yes - - 0 - Karen Stals
+/+ 12 c.1706G>A - r.1706g>a p.Arg569His probablyDamaging g.131298693G>A - - - GLE1_000002 1 Finnish LCCS1 patient (com-het) PubMed: Nousiainen et al. 2008 rs121434407 SUMMARY record yes - - - - Anne Polvi
+/+ 12 c.1706G>A - r.(?) p.(Arg569His) - g.131298693G>A - - - GLE1_000002 - PubMed: Ellard et al 2014 rs121434407 Germline yes - - 0 - Hana Lango-Allen
+/+ 13 c.1849G>A - r.1849g>a p.Val617Met benign g.131300337G>A - - - GLE1_000003 6 Finnish LAAHD patients (com-het) PubMed: Nousiainen et al. 2008 rs121434408 SUMMARY record yes - - - - Anne Polvi
+/+ 13 c.1849G>A - r.(?) p.(Val617Met) - g.131300337G>A - - - GLE1_000003 - PubMed: Ellard et al 2014 rs121434408 Germline yes - - 0 - Hana Lango-Allen
+/+ i14 c.1965-2A>C - r.1965_1972del p.Arg655Serfs*89 - g.131302552A>C - - - GLE1_000006 Two siblings with ALS (het) PubMed: Kaneb et al. 2015 - Germline yes 0/960 controls - 0 - Anne Polvi
+?/. 15 c.2009G>T Likely Pathogenic r.(?) p.(Arg670Leu) Probably damaging g.131302598G>T - - - GLE1_000009 - - rs201163437 Germline yes - - 0 - Karen Stals
+/+ 16 c.2051T>C - r.2051u>c p.Ile684Thr possiblyDamaging g.131303403T>C - - - GLE1_000004 6 Finnish LAAHD patients (com-het) PubMed: Nousiainen et al. 2008 rs121434409 SUMMARY record yes - - - - Anne Polvi
+?/+? 16 c.2089C>T - r.(?) p.(Arg697Cys) - g.131303441C>T - - - GLE1_000007 One patient with ALS (het) PubMed: Kaneb et al. 2015 - Germline yes 0/960 controls - 0 - Anne Polvi
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