Unique variants in the GLE1 gene

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

4 entries on 1 page. Showing entries 1 - 4.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Predict/PolyPhen     

Function/GVS     

Classification method     

Clinical classification     

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 3i c.433-10A>G r.432_433ins433-9_433-1 p.Thr144_Glu145insProPheGln - - - pathogenic (recessive) g.131284937A>G g.128522658A>G 432-10A>G - GLE1_000001 1 more item - - - SUMMARY record yes 1/200 chromosomes (Finland) - - - Anne Polvi
+/+ 1 12 c.1706G>A r.1706g>a p.Arg569His probablyDamaging - - pathogenic (recessive) g.131298693G>A g.128536414G>A - - GLE1_000002 1 Finnish LCCS1 patient (com-het) - - rs121434407 SUMMARY record yes - - - - Anne Polvi
+/+ 1 13 c.1849G>A r.1849g>a p.Val617Met benign - - pathogenic (recessive) g.131300337G>A g.128538058G>A - - GLE1_000003 6 Finnish LAAHD patients (com-het) - - rs121434408 SUMMARY record yes - - - - Anne Polvi
+/+ 1 16 c.2051T>C r.2051u>c p.Ile684Thr possiblyDamaging - - pathogenic (recessive) g.131303403T>C g.128541124T>C - - GLE1_000004 6 Finnish LAAHD patients (com-het) - - rs121434409 SUMMARY record yes - - - - Anne Polvi
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