View unique variants in gene DARS2

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

44 entries on 1 page. Showing entries 1 - 44.
Legend  

Effect     

Reported     

Location     

Exon     

AscendingDNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     

Chr     

Allele     

Type     

DNA change (genomic) (hg19)     

Published as     

GERP     

Segregation     

DB-ID     

MSCV     

dbSNP ID     

Frequency     

Sources     

Reference     

Variant remarks     

Genetic origin     

Owner     
./. 1 - - c.-691G>A p.(=) - - - - 1 Unknown - g.173793835G>A - - - CENPL_000001 MSCV_0015606 - - ; clinvar; - - - -
./. 1 - - c.-680G>C p.(=) - - - - 1 Unknown - g.173793846G>C - - - DARS2_000039 MSCV_0015607 - - ; clinvar; - - - -
./. 1 - - c.-139T>A p.(=) - - - - 1 Unknown - g.173794387T>A - - - DARS2_000040 MSCV_0015608 - - ; clinvar; - - - -
./. 1 - - c.-31-5T>A p.? - - - - 1 Unknown - g.173795820T>A - - - DARS2_000041 MSCV_0015609 - - ; clinvar; - - - -
+/+, ./. 2 - - c.-26A>G p.(=) - - - - 1 Unknown subst g.173795830A>G - 5.370 - DARS2_000017 MSCV_0000084 rs121918209 - ; clinvar, , clinVar; Ensembl; 17384640 - - -
?/? 1 - - c.69+1524_69+1525del p.(=) - - - - 1 Unknown del g.173797448_173797449del - - - DARS2_000018 MSCV_0001663 rs193302863 - ; Ensembl; - - - -
+/+ 1 - - c.69+1526_69+1527del p.(=) - - - - 1 Unknown del g.173797450_173797451del - - - DARS2_000019 MSCV_0001664 rs367543010 - ; clinVar; Ensembl; 17384640;20506600;19592391 - - -
+/+ 1 - - c.69+1526_69+1527delinsC p.(=) - - - - 1 Unknown delins g.173797450_173797451delinsC - - - DARS2_000010 MSCV_0000085 rs367543010 - ; clinVar; Ensembl; 17384640;20506600;19592391 - - -
./. 1 - - c.69+1526_69+1527insC p.(=) - - - - 1 Unknown ins g.173797450_173797451insC - - - DARS2_000011 MSCV_0000086 - - ; - - - -
./. 1 - - c.69+1526_69+1527insTT p.(=) - - - - 1 Unknown ins g.173797450_173797451insTT - - - DARS2_000012 MSCV_0000087 - - ; - - - -
./. 1 - - c.69+1535C>G p.(=) - - - - 1 Unknown - g.173797459C>G - - - DARS2_000042 MSCV_0015611 - - ; clinvar; - - - -
./. 1 - - c.69+1580T>C p.(=) - - - - 1 Unknown - g.173797504T>C - - - DARS2_000043 MSCV_0015612 - - ; clinvar; - - - -
./. 1 - - c.172-6T>G p.(=) - - - - 1 Unknown - g.173800667T>G - - - DARS2_000044 MSCV_0015613 - - ; clinvar; - - - -
+/+, ./. 2 - 4/16 c.230G>T p.(Cys77Phe) - missense_variant - - 1 Unknown subst g.173800731G>T - 6.070 - DARS2_000013 MSCV_0000088 rs121918208 - ; clinvar, , clinVar; Ensembl; 20506600;17384640 - - -
+/+ 1 - - c.267+2T>C p.? - splice_donor_variant - - 1 Unknown subst g.173800770T>C - 5.770 - DARS2_000014 MSCV_0000089 rs142433332 - ; clinVar; Ensembl; 19592391;20506600;17384640 - - -
./. 1 - - c.268-3T>C p.? - - - - 1 Unknown - g.173802511T>C - - - DARS2_000033 MSCV_0015615 - - ; clinvar; - - - -
+/+, ./. 2 - 5/16 c.311G>A p.(Arg104His) - missense_variant - - 1 Unknown subst g.173802557G>A - 5.940 - DARS2_000015 MSCV_0000090 rs121918210 - ; clinvar, , clinVar; Ensembl; 17384640 - - -
./. 1 - - c.342G>A p.(=) - - - - 1 Unknown - g.173802588G>A - - - DARS2_000034 MSCV_0015617 - - ; clinvar; - - - -
-/-, ./. 2 - 5/16 c.362A>G p.(Lys121Arg) - missense_variant - - 1 Unknown subst g.173802608A>G - 3.590 - DARS2_000016 MSCV_0000091 rs35515638 - ; clinVar; - - - -
./. 1 - - c.438+8T>C p.(=) - - - - 1 Unknown - g.173803665T>C - - - DARS2_000035 MSCV_0015619 - - ; clinvar; - - - -
+/+, ./. 2 - 8/16 c.562C>T p.(Arg188*) - stop_gained - - 1 Unknown subst g.173807344C>T - 4.760 - DARS2_000001 MSCV_0000092 rs121918206 - ; clinvar, , clinVar; Ensembl; 17384640 - - -
+/+, ./. 2 - 8/16 c.563G>A p.(Arg188Gln) - missense_variant - - 1 Unknown subst g.173807345G>A - 3.790 - DARS2_000002 MSCV_0000093 rs121918207 - ; clinvar, , clinVar; Ensembl; 17384640 - - -
./. 1 - 8/16 c.563G>C p.(Arg188Pro) - missense_variant - - 1 Unknown subst g.173807345G>C - 3.790 - DARS2_000003 MSCV_0000095 rs121918207 - ; 17384640 - - -
./. 1 - - c.609T>C p.(=) - - - - 1 Unknown - g.173807391T>C - - - DARS2_000036 MSCV_0015622 - - ; clinvar; - - - -
-/-, ./. 2 - 9/16 c.788G>A p.(Gly263Glu) - missense_variant - - 1 Unknown subst g.173808677G>A - 5.440 - DARS2_000004 MSCV_0000096 rs141298312 - ; clinVar; - - - -
./. 1 - - c.838T>A p.(Phe280Ile) - - - - 1 Unknown - g.173810046T>A - - - DARS2_000037 MSCV_0015624 - - ; clinvar; - - - -
./. 1 - - c.957T>C p.(=) - - - - 1 Unknown - g.173814420T>C - - - DARS2_000038 MSCV_0015625 - - ; clinvar; - - - -
+/+, ./. 2 - 12/16 c.1048G>T p.(Glu350*) - stop_gained - - 1 Unknown subst g.173819546G>T - 4.770 - DARS2_000005 MSCV_0000097 rs121918211 - ; clinvar, , clinVar; Ensembl; 17384640 - - -
./. 1 - - c.1333A>C p.(Lys445Gln) - - - - 1 Unknown - g.173822700A>C - - - DARS2_000027 MSCV_0015627 - - ; clinvar; - - - -
./. 1 - - c.1417C>A p.(Leu473Met) - - - - 1 Unknown - g.173823011C>A - - - DARS2_000028 MSCV_0015628 - - ; clinvar; - - - -
./. 1 - - c.1490A>C p.(Asp497Ala) - - - - 1 Unknown - g.173825844A>C - - - DARS2_000029 MSCV_0015629 - - ; clinvar; - - - -
./. 1 - - c.1525+11T>C p.(=) - - - - 1 Unknown - g.173825890T>C - - - DARS2_000030 MSCV_0015630 - - ; clinvar; - - - -
./. 1 - - c.1533C>T p.(=) - - - - 1 Unknown - g.173826663C>T - - - DARS2_000031 MSCV_0015631 - - ; clinvar; - - - -
./. 1 - - c.1579A>G p.(Ile527Val) - - - - 1 Unknown - g.173826709A>G - - - DARS2_000032 MSCV_0015632 - - ; clinvar; - - - -
+/+, ./. 2 - 16/16 c.1600C>T p.(Arg534Trp) - missense_variant - - 1 Unknown subst g.173826730C>T - 4.730 - DARS2_000006 MSCV_0000098 rs200670286 - ; clinVar; 21749991 - - -
./. 1 - - c.1604G>C p.(Gly535Ala) - - - - 1 Unknown - g.173826734G>C - - - DARS2_000021 MSCV_0015634 - - ; clinvar; - - - -
+/+, ./. 2 - 16/16 c.1612C>T p.(Leu538Phe) - missense_variant - - 1 Unknown subst g.173826742C>T - 5.650 - DARS2_000007 MSCV_0000099 rs121918212 - ; clinvar, , clinVar; Ensembl; 17384640 - - -
+/+, ./. 2 - 16/16 c.1651C>G p.(Leu551Val) - missense_variant - - 1 Unknown subst g.173826781C>G - 1.230 - DARS2_000008 MSCV_0000100 rs121918205 - ; clinvar, , clinVar; Ensembl; 17384640 - - -
+/+, ./. 2 - 16/16 c.1652T>A p.(Leu551Gln) - missense_variant - - 1 Unknown subst g.173826782T>A - 5.650 - DARS2_000009 MSCV_0000101 rs121918213 - ; clinvar, , clinVar; Ensembl; 17384640 - - -
./. 1 - - c.*168C>T p.(=) - - - - 1 Unknown - g.173827011C>T - - - DARS2_000022 MSCV_0015638 - - ; clinvar; - - - -
./. 1 - - c.*210T>C p.(=) - - - - 1 Unknown - g.173827053T>C - - - DARS2_000023 MSCV_0015639 - - ; clinvar; - - - -
./. 1 - - c.*431G>A p.(=) - - - - 1 Unknown - g.173827274G>A - - - DARS2_000024 MSCV_0015640 - - ; clinvar; - - - -
./. 1 - - c.*642C>A p.(=) - - - - 1 Unknown - g.173827485C>A - - - DARS2_000025 MSCV_0015641 - - ; clinvar; - - - -
./. 1 - - c.*653T>G p.(=) - - - - 1 Unknown - g.173827496T>G - - - DARS2_000026 MSCV_0015642 - - ; clinvar; - - - -
Legend  

Variations Associated with Mitochondrial Diseases Gene

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium