View unique variants in gene ELAC2

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

62 entries on 1 page. Showing entries 1 - 62.
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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.50C>T p.(Ser17Leu) - - - - 17 Unknown - g.12921215G>A - - - ELAC2_000008 MSCV_0018252 - - ; clinvar; - - - -
./. 1 - - c.82C>T p.(Arg28Cys) - - - - 17 Unknown - g.12921183G>A - - - ELAC2_000007 MSCV_0018251 - - ; clinvar; - - - -
./. 1 - - c.95C>G p.(Pro32Arg) - - - - 17 Unknown - g.12921170G>C - - - ELAC2_000006 MSCV_0018250 - - ; clinvar; - - - -
./. 1 - - c.98G>T p.(Arg33Leu) - - - - 17 Unknown - g.12921167C>A - - - ELAC2_000005 MSCV_0018249 - - ; clinvar; - - - -
./. 1 - - c.145T>C p.(Ser49Pro) - - - - 17 Unknown - g.12921120A>G - - - ELAC2_000019 MSCV_0018248 - - ; clinvar; - - - -
./. 1 - - c.155C>G p.(Ser52Cys) - - - - 17 Unknown - g.12921110G>C - - - ELAC2_000015 MSCV_0018246 - - ; clinvar; - - - -
./. 1 - - c.155C>T p.(Ser52Phe) - - - - 17 Unknown - g.12921110G>A - - - ELAC2_000017 MSCV_0018247 - - ; clinvar; - - - -
./. 1 - - c.174G>A p.(=) - - - - 17 Unknown - g.12921091C>T - - - ELAC2_000014 MSCV_0018245 - - ; clinvar; - - - -
./. 1 - - c.240C>T p.(=) - - - - 17 Unknown - g.12921025G>A - - - ELAC2_000012 MSCV_0018244 - - ; clinvar; - - - -
./. 1 - - c.297-2_297-1delinsT p.? - - - - 17 Unknown - g.12920250_12920251delinsA - - - ELAC2_000011 MSCV_0018243 - - ; clinvar; - - - -
./. 1 - - c.325T>C p.(Phe109Leu) - - - - 17 Unknown - g.12920221A>G - - - ELAC2_000009 MSCV_0018242 - - ; clinvar; - - - -
./. 1 - - c.347C>T p.(Ser116Phe) - - - - 17 Unknown - g.12920199G>A - - - ELAC2_000022 MSCV_0018241 - - ; clinvar; - - - -
./. 1 - - c.368-4T>A p.? - - - - 17 Unknown - g.12919153A>T - - - ELAC2_000021 MSCV_0018240 - - ; clinvar; - - - -
./. 1 - - c.387G>A p.(=) - - - - 17 Unknown - g.12919130C>T - - - ELAC2_000020 MSCV_0018239 - - ; clinvar; - - - -
./. 1 - - c.394G>A p.(Gly132Arg) - - - - 17 Unknown - g.12919123C>T - - - ELAC2_000018 MSCV_0018238 - - ; clinvar; - - - -
./. 1 - - c.432+7C>T p.(=) - - - - 17 Unknown - g.12919078G>A - - - ELAC2_000016 MSCV_0018237 - - ; clinvar; - - - -
+/+, ./. 2 - 5/23 c.460T>C p.(Phe154Leu) probably_damaging(0.985) missense_variant - -, deleterious(0) 17 Unknown subst g.12917786A>G - 5.110 - ELAC2_000004 MSCV_0000712 rs397515465 - ; clinvar; 23849775 - - -
./. 1 - - c.560-1113A>G p.(=) - - - - 17 Unknown - g.12915101T>C - - - ELAC2_000013 MSCV_0018235 - - ; clinvar; - - - -
+/+, ./. 2 - 8/23 c.631A>T p.(Arg211*) - stop_gained - - 17 Unknown subst g.12909284T>A - 3.260 - ELAC2_000003 MSCV_0000711 rs397515464 - ; clinvar; 23849775 - - -
./. 1 - - c.809A>C p.(Glu270Ala) - - - - 17 Unknown - g.12908360T>G - - - ELAC2_000010 MSCV_0018233 - - ; clinvar; - - - -
./. 1 - - c.908T>G p.(Met303Arg) - - - - 17 Unknown - g.12906847A>C - - - ELAC2_000056 MSCV_0018232 - - ; clinvar; - - - -
./. 1 - - c.1066A>G p.(Ile356Val) - - - - 17 Unknown - g.12905790T>C - - - ELAC2_000055 MSCV_0018231 - - ; clinvar; - - - -
+/+, ./. 2 - 13/23 c.1147C>T p.(Leu383Phe) benign(0.41) missense_variant - -, tolerated(0.22) 17 Unknown subst g.12905628G>A - 4.830 - ELAC2_000002 MSCV_0000710 rs397515466 - ; clinvar; 23849775 - - -
./. 1 - - c.1185-8_1185-7insTCTC p.(=) - - - - 17 Unknown - g.12903598_12903599insGAGA - - - ELAC2_000054 MSCV_0018229 - - ; clinvar; - - - -
./. 1 - - c.1185-6_1185-5insC p.(=) - - - - 17 Unknown - g.12903596_12903597insG - - - ELAC2_000053 MSCV_0018228 - - ; clinvar; - - - -
./. 1 - - c.1257C>T p.(=) - - - - 17 Unknown - g.12903519G>A - - - ELAC2_000052 MSCV_0018227 - - ; clinvar; - - - -
./. 1 - - c.1269C>T p.(=) - - - - 17 Unknown - g.12903507G>A - - - ELAC2_000051 MSCV_0018226 - - ; clinvar; - - - -
./. 1 - - c.1270A>T p.(Arg424Trp) - - - - 17 Unknown - g.12903506T>A - - - ELAC2_000050 MSCV_0018225 - - ; clinvar; - - - -
./. 1 - - c.1304-3C>T p.? - - - - 17 Unknown - g.12901828G>A - - - ELAC2_000049 MSCV_0018224 - - ; clinvar; - - - -
./. 1 - - c.1338T>C p.(=) - - - - 17 Unknown - g.12901791A>G - - - ELAC2_000048 MSCV_0018223 - - ; clinvar; - - - -
./. 1 - - c.1359G>C p.(=) - - - - 17 Unknown - g.12901770C>G - - - ELAC2_000047 MSCV_0018222 - - ; clinvar; - - - -
+/+, ./. 2 - 16/23 c.1439C>T p.(Thr480Ile) probably_damaging(0.983) missense_variant - -, deleterious(0) 17 Unknown subst g.12899964G>A - 5.580 - ELAC2_000001 MSCV_0000709 rs397515463 - ; clinvar; 23849775 - - -
./. 1 - - c.1501G>A p.(Ala501Thr) - - - - 17 Unknown - g.12899902C>T - - - ELAC2_000046 MSCV_0018220 - - ; clinvar; - - - -
./. 1 - - c.1525G>A p.(Ala509Thr) - - - - 17 Unknown - g.12899878C>T - - - ELAC2_000045 MSCV_0018219 - - ; clinvar; - - - -
./. 1 - - c.1539G>A p.(=) - - - - 17 Unknown - g.12899864C>T - - - ELAC2_000044 MSCV_0018218 - - ; clinvar; - - - -
./. 1 - - c.1549A>G p.(Ser517Gly) - - - - 17 Unknown - g.12899286T>C - - - ELAC2_000043 MSCV_0018217 - - ; clinvar; - - - -
./. 1 - - c.1572C>T p.(=) - - - - 17 Unknown - g.12899263G>A - - - ELAC2_000042 MSCV_0018216 - - ; clinvar; - - - -
./. 1 - - c.1578+1G>C p.? - - - - 17 Unknown - g.12899256C>G - - - ELAC2_000041 MSCV_0018215 - - ; clinvar; - - - -
./. 1 - - c.1579-8_1579-7insT p.(=) - - - - 17 Unknown - g.12899136_12899137insA - - - ELAC2_000040 MSCV_0018214 - - ; clinvar; - - - -
./. 1 - - c.1660C>G p.(Gln554Glu) - - - - 17 Unknown - g.12899048G>C - - - ELAC2_000039 MSCV_0018213 - - ; clinvar; - - - -
./. 1 - - c.1679A>G p.(His560Arg) - - - - 17 Unknown - g.12899029T>C - - - ELAC2_000038 MSCV_0018212 - - ; clinvar; - - - -
./. 1 - - c.1745A>T p.(Glu582Val) - - - - 17 Unknown - g.12898323T>A - - - ELAC2_000037 MSCV_0018211 - - ; clinvar; - - - -
./. 1 - - c.1865T>C p.(Val622Ala) - - - - 17 Unknown - g.12898125A>G - - - ELAC2_000036 MSCV_0018210 - - ; clinvar; - - - -
./. 1 - - c.1873G>A p.(Gly625Arg) - - - - 17 Unknown - g.12898117C>T - - - ELAC2_000035 MSCV_0018209 - - ; clinvar; - - - -
./. 1 - - c.1889del p.(Cys630Serfs*14) - - - - 17 Unknown - g.12898101del - - - ELAC2_000034 MSCV_0018208 - - ; clinvar; - - - -
./. 1 - - c.1956T>G p.(=) - - - - 17 Unknown - g.12897774A>C - - - ELAC2_000033 MSCV_0018207 - - ; clinvar; - - - -
./. 1 - - c.2010C>T p.(=) - - - - 17 Unknown - g.12897127G>A - - - ELAC2_000032 MSCV_0018206 - - ; clinvar; - - - -
./. 1 - - c.2022G>T p.(=) - - - - 17 Unknown - g.12897115C>A - - - ELAC2_000031 MSCV_0018205 - - ; clinvar; - - - -
./. 1 - - c.2031G>A p.(=) - - - - 17 Unknown - g.12897106C>T - - - ELAC2_000030 MSCV_0018204 - - ; clinvar; - - - -
./. 1 - - c.2043G>T p.(Met681Ile) - - - - 17 Unknown - g.12897094C>A - - - ELAC2_000029 MSCV_0018203 - - ; clinvar; - - - -
./. 1 - - c.2155A>G p.(Thr719Ala) - - - - 17 Unknown - g.12896341T>C - - - ELAC2_000028 MSCV_0018202 - - ; clinvar; - - - -
./. 1 - - c.2205C>T p.(=) - - - - 17 Unknown - g.12896291G>A - - - ELAC2_000027 MSCV_0018201 - - ; clinvar; - - - -
./. 1 - - c.2218_2229del p.(Glu740_Glu743del) - - - - 17 Unknown - g.12896267_12896278del - - - ELAC2_000025 MSCV_0018199 - - ; clinvar; - - - -
./. 1 - - c.2222G>A p.(Arg741His) - - - - 17 Unknown - g.12896274C>T - - - ELAC2_000026 MSCV_0018200 - - ; clinvar; - - - -
./. 1 - - c.2233C>T p.(Arg745Trp) - - - - 17 Unknown - g.12896263G>A - - - ELAC2_000024 MSCV_0018198 - - ; clinvar; - - - -
./. 1 - - c.2252G>A p.(Arg751Gln) - - - - 17 Unknown - g.12896244C>T - - - ELAC2_000023 MSCV_0018197 - - ; clinvar; - - - -
./. 1 - - c.2255C>T p.(Ala752Val) - - - - 17 Unknown - g.12896241G>A - - - ELAC2_000059 MSCV_0018196 - - ; clinvar; - - - -
./. 1 - - c.2256G>A p.(=) - - - - 17 Unknown - g.12896240C>T - - - ELAC2_000058 MSCV_0018195 - - ; clinvar; - - - -
./. 1 - - c.2284G>A p.(Gly762Ser) - - - - 17 Unknown - g.12896212C>T - - - ELAC2_000057 MSCV_0018194 - - ; clinvar; - - - -
./. 1 - - c.2295_2296insCGGGAGCTGCGGCAGGTGCGGGCGGCCCTCCTGTCCAGGGAGCTGGCAGGCGGCCTGGAGGAT p.(Arg745_Asp765dup) - - - - 17 Unknown - g.12896200_12896201insATCCTCCAGGCCGCCTGCCAGCTCCCTGGACAGGAGGGCCGCCCGCACCTGCCGCAGCTCCCG - - - ELAC2_000062 MSCV_0018193 - - ; clinvar; - - - -
./. 1 - - c.2295_2296insCGGGGGCTGCGGCAGGTGCGGGCGGCCCTCCTGTCCAGGGAGCTGGCAGGCGGCCTGGAGGAT p.(Asp765_Gly766insArgGlyLeuArgGlnValArgAlaAlaLeuLeuSerArgGluLeuAlaGlyGlyLeuGluAsp) - - - - 17 Unknown - g.12896200_12896201insATCCTCCAGGCCGCCTGCCAGCTCCCTGGACAGGAGGGCCGCCCGCACCTGCCGCAGCCCCCG - - - ELAC2_000061 MSCV_0018192 - - ; clinvar; - - - -
./. 1 - - c.2337G>A p.(=) - - - - 17 Unknown - g.12896159C>T - - - ELAC2_000060 MSCV_0018191 - - ; clinvar; - - - -
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Variations Associated with Mitochondrial Diseases Gene

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium