Full data view for 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     

Allele     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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ISCN     

DB-ID     

Variant remarks     

Reference     

dbSNP ID     

Germline/Somatic/De novo     

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Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

Individual_ID     

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Panel size     

Owner     
+/+ 1 c.209C>A - r.(?) p.(Ser70*) - Unknown g.131271264C>A - - - GLE1_000005 One patient with ALS (het) PubMed: Kaneb et al. 2015 - Germline yes 0/960 controls - 0 - DNA SEQ - - ALS - PubMed: Kaneb et al. 2015 - ? ? - - 63y 0 - - 1 Anne Polvi
+/+ i3 c.433-10A>G - r.[433-10_433ins;433-10a>g] p.Thr144_Glu145insProPheGln - Unknown 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 - - - - - - - - - - - - - - - - - - -
+?/. 4 c.581G>A Likely Pathogenic r.(?) p.(Ser194Asn) Probably damaging Maternal (confirmed) g.131285095G>A - - - GLE1_000008 - - - Germline yes - - 0 - DNA SEQ, SEQ-NG Blood - LCCS-1 - - - - ? - - - 0 Yes - 1 Karen Stals
+/+ 12 c.1706G>A - r.1706g>a p.Arg569His probablyDamaging Unknown g.131298693G>A - - - GLE1_000002 1 Finnish LCCS1 patient (com-het) PubMed: Nousiainen et al. 2008 rs121434407 SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+/+ 12 c.1706G>A - r.(?) p.(Arg569His) - Paternal (confirmed) g.131298693G>A - - - GLE1_000002 - PubMed: Ellard et al 2014 rs121434407 Germline yes - - 0 - DNA SEQ-NG-I - - LCCS-1 - PubMed: Ellard et al 2014 This entry represents 2 fetuses, from the same couple, affected with with fetal akinesia syndrome (pterygia and joint contractures), all terminated at 15-20 weeks gestation - no United Kingdom (Great Britain) white European 00y00m00d 0 - - 2 Hana Lango-Allen
+/+ 13 c.1849G>A - r.1849g>a p.Val617Met benign Unknown g.131300337G>A - - - GLE1_000003 6 Finnish LAAHD patients (com-het) PubMed: Nousiainen et al. 2008 rs121434408 SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+/+ 13 c.1849G>A - r.(?) p.(Val617Met) - Maternal (confirmed) g.131300337G>A - - - GLE1_000003 - PubMed: Ellard et al 2014 rs121434408 Germline yes - - 0 - DNA SEQ-NG-I - - LCCS-1 - PubMed: Ellard et al 2014 This entry represents 2 fetuses, from the same couple, affected with with fetal akinesia syndrome (pterygia and joint contractures), all terminated at 15-20 weeks gestation - no United Kingdom (Great Britain) white European 00y00m00d 0 - - 2 Hana Lango-Allen
+/+ i14 c.1965-2A>C - r.1965_1972del p.Arg655Serfs*89 - Parent #1 g.131302552A>C - - - GLE1_000006 Two siblings with ALS (het) PubMed: Kaneb et al. 2015 - Germline yes 0/960 controls - 0 - DNA SEQ - - ALS - PubMed: Kaneb et al. 2015 Family ALS-34 affected siblings 53 and 66 F no - - - 0 - - 2 Anne Polvi
+?/. 15 c.2009G>T Likely Pathogenic r.(?) p.(Arg670Leu) Probably damaging Paternal (confirmed) g.131302598G>T - - - GLE1_000009 - - rs201163437 Germline yes - - 0 - DNA SEQ, SEQ-NG Blood - LCCS-1 - - - - ? - - - 0 Yes - 1 Karen Stals
+/+ 16 c.2051T>C - r.2051u>c p.Ile684Thr possiblyDamaging Unknown g.131303403T>C - - - GLE1_000004 6 Finnish LAAHD patients (com-het) PubMed: Nousiainen et al. 2008 rs121434409 SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+?/+? 16 c.2089C>T - r.(?) p.(Arg697Cys) - Unknown g.131303441C>T - - - GLE1_000007 One patient with ALS (het) PubMed: Kaneb et al. 2015 - Germline yes 0/960 controls - 0 - DNA SEQ - - ALS - PubMed: Kaneb et al. 2015 - - - (Canada) Caucasian - 0 - - 1 Anne Polvi
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