Full data view for gene DARS2

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

56 entries on 1 page. Showing entries 1 - 56.
Legend  

Effect     

Location     

Exon     

AscendingDNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     

Allele     

Type     

DNA change (genomic) (hg19)     

Published as     

GERP     

Segregation     

DB-ID     

MSCV     

dbSNP ID     

Frequency     

Sources     

Reference     

Variant remarks     

Genetic origin     

Date     

Template     

Technique     

Tissue     

Description     

Disease     

Reference     

Gender     

Geographic origin     

Ethnic origin     

Population     

Consanguinity     

Age of death     

Cause of death     

Remarks     

Panel size     

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

Variations Associated with Mitochondrial Diseases Gene

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium