Transcript #00000090

Transcript name transcript variant X2
Gene name DARS2 (aspartyl-tRNA synthetase 2, mitochondrial)
Chromosome 1
Transcript - NCBI ID XM_005245300.1
Transcript - Ensembl ID -
Protein - NCBI ID XP_005245357.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

15 entries on 1 page. Showing entries 1 - 15.
Legend  

Affects function     

Location     

Exon     

AscendingDNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     
+/+ - 2/14 c.133A>G p.(Ser45Gly) - missense_variant - -
?/? - - c.228-23_228-22del p.(=) - - - -
+/+ - - c.228-21_228-20del p.(=) - - - -
+/+ - - c.228-21_228-20delinsC p.(=) - - - -
./. - - c.228-21_228-20insC p.(=) - - - -
./. - - c.228-21_228-20insTT p.(=) - - - -
+/+ - 5/17 c.455G>T p.(Cys152Phe) possibly_damaging(0.498) missense_variant - deleterious(0)
+/+ - - c.492+2T>C p.? - splice_donor_variant - -
+/+ - 6/17 c.536G>A p.(Arg179His) probably_damaging(1) missense_variant - deleterious(0)
-/- - 6/17 c.587A>G p.(Lys196Arg) benign(0.012) missense_variant - tolerated(0.28)
+/+ - 9/17 c.787C>T p.(Arg263*) - stop_gained - -
+/+ - 9/17 c.788G>A p.(Arg263Gln) probably_damaging(0.978) missense_variant - deleterious(0.01)
./. - 9/17 c.788G>C p.(Arg263Pro) probably_damaging(0.999) missense_variant - deleterious(0)
-/- - 10/17 c.1013G>A p.(Gly338Glu) benign(0.114) missense_variant - tolerated(0.26)
+/+ - 13/17 c.1273G>T p.(Glu425*) - stop_gained - -
Legend