All transcript variants in gene GLE1

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

18 entries on 1 page. Showing entries 1 - 18.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Predict/PolyPhen     

Function/GVS     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+/+ 1 c.209C>A - r.(?) p.(Ser70*) - - g.131271264C>A g.128508985C>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 g.128522658A>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
?/. - c.485C>T VUS r.(?) p.(Ser162Leu) - - g.131284999C>T - GLE1:c.485C>T (S162L) - GLE1_000010 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
+?/. 4 c.581G>A Likely Pathogenic r.(?) p.(Ser194Asn) Probably damaging missense g.131285095G>A g.128522816G>A - - GLE1_000008 - - - - Germline yes - - 0 - Karen Stals
-/. - c.727A>G benign r.(?) p.(Ile243Val) - - g.131285955A>G - GLE1:c.727A>G (I243V) - GLE1_000011 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.727A>G benign r.(?) p.(Ile243Val) - - g.131285955A>G - GLE1:c.727A>G (I243V) - GLE1_000011 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.727A>G benign r.(?) p.(Ile243Val) - - g.131285955A>G - GLE1:c.727A>G (I243V) - GLE1_000011 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.1000G>A benign r.(?) p.(Glu334Lys) - - g.131287573G>A - GLE1:c.1000G>A (E334K) - GLE1_000012 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
?/. - c.1402C>T VUS r.(?) p.(Leu468Phe) - - g.131295881C>T - GLE1:c.1402C>T (L468F) - GLE1_000013 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/+ 12 c.1706G>A - r.1706g>a p.Arg569His probablyDamaging - g.131298693G>A g.128536414G>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) - coding g.131298693G>A g.128536414G>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 g.128538058G>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) - coding g.131300337G>A g.128538058G>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 g.128540273A>C - - GLE1_000006 Two siblings with ALS (het) PubMed: Kaneb et al. 2015 - - Germline yes 0/960 controls - 0 - Anne Polvi
?/. - c.1995G>T VUS r.(?) p.(Met665Ile) - - g.131302584G>T - GLE1:c.1995G>T (M665I) - GLE1_000014 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+?/. 15 c.2009G>T Likely Pathogenic r.(?) p.(Arg670Leu) Probably damaging missense g.131302598G>T g.128540319G>T - - GLE1_000009 - - - rs201163437 Germline yes - - 0 - Karen Stals
+/+ 16 c.2051T>C - r.2051u>c p.Ile684Thr possiblyDamaging - g.131303403T>C g.128541124T>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 g.128541162C>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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