Transcript #00000247

Transcript name transcript variant 1
Gene name GLE1 (GLE1 RNA export mediator homolog (yeast))
Chromosome 9
Transcript - NCBI ID NM_001003722.1
Transcript - Ensembl ID -
Protein - NCBI ID NP_001003722.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

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

Affects function     

Exon     

AscendingDNA change (cDNA)     

Class.     

RNA change     

Protein     

Predict/PolyPhen     

Function/GVS     
+/+ 1 c.209C>A - r.(?) p.(Ser70*) - -
+/+ i3 c.433-10A>G - r.[433-10_433ins;433-10a>g] p.Thr144_Glu145insProPheGln - -
+?/. 4 c.581G>A Likely Pathogenic r.(?) p.(Ser194Asn) Probably damaging missense
+/+ 12 c.1706G>A - r.(?) p.(Arg569His) - coding
+/+ 12 c.1706G>A - r.1706g>a p.Arg569His probablyDamaging -
+/+ 13 c.1849G>A - r.(?) p.(Val617Met) - coding
+/+ 13 c.1849G>A - r.1849g>a p.Val617Met benign -
+/+ i14 c.1965-2A>C - r.1965_1972del p.Arg655Serfs*89 - -
+?/. 15 c.2009G>T Likely Pathogenic r.(?) p.(Arg670Leu) Probably damaging missense
+/+ 16 c.2051T>C - r.2051u>c p.Ile684Thr possiblyDamaging -
+?/+? 16 c.2089C>T - r.(?) p.(Arg697Cys) - -
Legend