View unique variants in gene DARS2

MSeqDR-LSDB: Mitochondrial Disease LSDB
Information The variants shown are described using the transcript reference sequence.

19 entries on 1 page. Showing entries 1 - 19.
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Effect     

Reported     

Location     

Exon     

AscendingDNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     

Type     

DNA change (genomic) (hg19)     

Published as     

GERP     

Segregation     

DB-ID     

dbSNP ID     

Frequency     

Sources     

Reference     

Variant remarks     

Genetic origin     

Owner     
+/+ 1 - - c.-26A>G p.(=) - - - - subst g.173795830A>G - 5.370 - DARS2_000017 rs121918209 - ; clinVar; Ensembl; 17384640 - - LOVD
?/? 1 - - c.69+1524_69+1525del p.(=) - - - - del g.173797448_173797449del - - - DARS2_000018 rs193302863 - ; Ensembl; - - - LOVD
+/+ 1 - - c.69+1526_69+1527del p.(=) - - - - del g.173797450_173797451del - - - DARS2_000019 rs367543010 - ; clinVar; Ensembl; 17384640;20506600;19592391 - - LOVD
+/+ 1 - - c.69+1526_69+1527delinsC p.(=) - - - - delins g.173797450_173797451delinsC - - - DARS2_000010 rs367543010 - ; clinVar; Ensembl; 17384640;20506600;19592391 - - LOVD
./. 1 - - c.69+1526_69+1527insC p.(=) - - - - ins g.173797450_173797451insC - - - DARS2_000011 - - ; - - - LOVD
./. 1 - - c.69+1526_69+1527insTT p.(=) - - - - ins g.173797450_173797451insTT - - - DARS2_000012 - - ; - - - LOVD
+/+ 1 - 4/16 c.230G>T p.(Cys77Phe) - missense_variant - - subst g.173800731G>T - 6.070 - DARS2_000013 rs121918208 - ; clinVar; Ensembl; 20506600;17384640 - - LOVD
+/+ 1 - - c.267+2T>C p.? - splice_donor_variant - - subst g.173800770T>C - 5.770 - DARS2_000014 rs142433332 - ; clinVar; Ensembl; 19592391;20506600;17384640 - - LOVD
+/+ 1 - 5/16 c.311G>A p.(Arg104His) - missense_variant - - subst g.173802557G>A - 5.940 - DARS2_000015 rs121918210 - ; clinVar; Ensembl; 17384640 - - LOVD
-/- 1 - 5/16 c.362A>G p.(Lys121Arg) - missense_variant - - subst g.173802608A>G - 3.590 - DARS2_000016 rs35515638 - ; clinVar; - - - LOVD
+/+ 1 - 8/16 c.562C>T p.(Arg188*) - stop_gained - - subst g.173807344C>T - 4.760 - DARS2_000001 rs121918206 - ; clinVar; Ensembl; 17384640 - - LOVD
+/+ 1 - 8/16 c.563G>A p.(Arg188Gln) - missense_variant - - subst g.173807345G>A - 3.790 - DARS2_000002 rs121918207 - ; clinVar; Ensembl; 17384640 - - LOVD
./. 1 - 8/16 c.563G>C p.(Arg188Pro) - missense_variant - - subst g.173807345G>C - 3.790 - DARS2_000003 rs121918207 - ; 17384640 - - LOVD
-/- 1 - 9/16 c.788G>A p.(Gly263Glu) - missense_variant - - subst g.173808677G>A - 5.440 - DARS2_000004 rs141298312 - ; clinVar; - - - LOVD
+/+ 1 - 12/16 c.1048G>T p.(Glu350*) - stop_gained - - subst g.173819546G>T - 4.770 - DARS2_000005 rs121918211 - ; clinVar; Ensembl; 17384640 - - LOVD
+/+ 1 - 16/16 c.1600C>T p.(Arg534Trp) - missense_variant - - subst g.173826730C>T - 4.730 - DARS2_000006 rs200670286 - ; clinVar; 21749991 - - LOVD
+/+ 1 - 16/16 c.1612C>T p.(Leu538Phe) - missense_variant - - subst g.173826742C>T - 5.650 - DARS2_000007 rs121918212 - ; clinVar; Ensembl; 17384640 - - LOVD
+/+ 1 - 16/16 c.1651C>G p.(Leu551Val) - missense_variant - - subst g.173826781C>G - 1.230 - DARS2_000008 rs121918205 - ; clinVar; Ensembl; 17384640 - - LOVD
+/+ 1 - 16/16 c.1652T>A p.(Leu551Gln) - missense_variant - - subst g.173826782T>A - 5.650 - DARS2_000009 rs121918213 - ; clinVar; Ensembl; 17384640 - - LOVD
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Variations Associated with Mitochondrial Diseases Gene

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium