Full data view for gene BCS1L

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

61 entries on 1 page. Showing entries 1 - 61.
Legend  

Effect     

Location     

Exon     

AscendingDNA change (cDNA)     

Position     

RNA change     

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.-262G>T - r.(=) p.(=) - - - - Unknown - g.219524463G>T - - - BCS1L_000044 MSCV_0019586 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.-127T>C - r.(=) p.(=) - - - - Unknown - g.219524891T>C - - - BCS1L_000040 MSCV_0019587 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.-94T>G - r.(=) p.(=) - - - - Unknown - g.219524924T>G - - - BCS1L_000041 MSCV_0019588 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
+?/+? - - c.-50+155T>A - r.? p.? - - - - Unknown subst g.219525123T>A - -6.990 - BCS1L_000016 MSCV_0000863 rs386833855 - ; clinVar; 12215968 - - - - - - - - - - - - - - - - - - -
./. - - c.-50+155T>A - r.(=) p.(=) - - - - Unknown - g.219525123T>A - - - BCS1L_000016 MSCV_0000863 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.-43G>A - r.(=) p.(=) - - - - Unknown - g.219525668G>A - - - BCS1L_000042 MSCV_0019590 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.-14G>A - r.(=) p.(=) - - - - Unknown - g.219525697G>A - - - BCS1L_000043 MSCV_0019591 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
+/+ - 3/4 c.103G>C - r.? p.? probably_damaging(0.973) missense_variant - deleterious(0.01) Unknown subst g.219525813G>C - 5.460 - BCS1L_000017 MSCV_0002858 rs121908579 - ; clinVar; Ensembl; 17314340 - - - - - - - - - - - - - - - - - - -
./. - - c.103G>C - r.(?) p.(Gly35Arg) - - - - Unknown - g.219525813G>C - - - BCS1L_000017 MSCV_0002858 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.112C>G - r.(?) p.(Leu38Val) - - - - Unknown - g.219525822C>G - - - BCS1L_000038 MSCV_0019593 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
+/+ - 3/4 c.133C>T - r.? p.? probably_damaging(1) missense_variant - deleterious(0) Unknown subst g.219525843C>T - 5.460 - BCS1L_000014 MSCV_0000864 rs121908575 - ; clinVar; Ensembl; 19508421;12910490 - - - - - - - - - - - - - - - - - - -
./. - - c.133C>T - r.(?) p.(Arg45Cys) - - - - Unknown - g.219525843C>T - - - BCS1L_000014 MSCV_0000864 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
+/+ - 3/4 c.148A>G - r.? p.? probably_damaging(0.976) missense_variant - tolerated(0.07) Unknown subst g.219525858A>G - 5.460 - BCS1L_000015 MSCV_0000865 rs121908580 - ; clinVar; Ensembl; 19162478 - - - - - - - - - - - - - - - - - - -
./. - - c.148A>G - r.(?) p.(Thr50Ala) - - - - Unknown - g.219525858A>G - - - BCS1L_000015 MSCV_0000865 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
+/+ - 3/4 c.166C>T - r.? p.? - stop_gained - - Unknown subst g.219525876C>T - 2.230 - BCS1L_000012 MSCV_0000866 rs121908576 - ; clinVar; Ensembl; 12910490 - - - - - - - - - - - - - - - - - - -
./. - - c.166C>T - r.(?) p.(Arg56*) - - - - Unknown - g.219525876C>T - - - BCS1L_000012 MSCV_0000866 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.201C>T - r.(=) p.(=) - - - - Unknown - g.219525911C>T - - - BCS1L_000039 MSCV_0019597 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.205C>T - r.(?) p.(Arg69Cys) - - - - Unknown - g.219525915C>T - - - BCS1L_000031 MSCV_0019598 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
+/+ - 3/4 c.232A>G - r.? p.? benign(0.364) missense_variant - deleterious(0) Unknown subst g.219525942A>G - 5.460 - BCS1L_000013 MSCV_0000867 rs28937590 - ; clinVar; Ensembl; 11528392;12215968 - - - - - - - - - - - - - - - - - - -
./. - - c.232A>G - r.(?) p.(Ser78Gly) - - - - Unknown - g.219525942A>G - - - BCS1L_000013 MSCV_0000867 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.245C>A - r.(?) p.(Ser82*) - - - - Unknown - g.219525955C>A - - - BCS1L_000032 MSCV_0019600 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.258T>C - r.(=) p.(=) - - - - Unknown - g.219525968T>C - - - BCS1L_000033 MSCV_0019601 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
+/+ - 3/4 c.296C>T - r.? p.? probably_damaging(1) missense_variant - deleterious(0) Unknown subst g.219526006C>T - 5.600 - BCS1L_000001 MSCV_0000868 rs121908572 - ; clinVar; Ensembl; 11528392 - - - - - - - - - - - - - - - - - - -
./. - - c.296C>T - r.(?) p.(Pro99Leu) - - - - Unknown - g.219526006C>T - - - BCS1L_000001 MSCV_0000868 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
+?/+? - - c.320+1G>T - r.spl? p.? - splice_donor_variant - - Unknown subst g.219526031G>T - 4.530 - BCS1L_000002 MSCV_0000869 rs386833856 - ; clinVar; Ensembl; 12215968 - - - - - - - - - - - - - - - - - - -
./. - - c.320+1G>T - r.spl? p.? - - - - Unknown - g.219526031G>T - - - BCS1L_000002 MSCV_0000869 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.321-12G>A - r.(=) p.(=) - - - - Unknown - g.219526117G>A - - - BCS1L_000034 MSCV_0019604 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.349C>T - r.(?) p.(Arg117*) - - - - Unknown - g.219526157C>T - - - BCS1L_000035 MSCV_0019605 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.416del - r.(?) p.(Leu140Trpfs*18) - - - - Unknown - g.219526224del - - - BCS1L_000036 MSCV_0019606 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
+?/+? - 4/9 c.431G>A - r.? p.? benign(0.427) missense_variant - deleterious(0.02) Unknown subst g.219526239G>A - 5.330 - BCS1L_000003 MSCV_0000870 rs386833857 - ; clinVar; Ensembl; 12215968 - - - - - - - - - - - - - - - - - - -
./. - - c.431G>A - r.(?) p.(Arg144Gln) - - - - Unknown - g.219526239G>A - - - BCS1L_000003 MSCV_0000870 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.460+2T>C - r.spl? p.? - - - - Unknown - g.219526270T>C - - - BCS1L_000037 MSCV_0019608 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
+/+ - 5/9 c.464G>C - r.? p.? probably_damaging(0.993) missense_variant - deleterious(0) Unknown subst g.219526485G>C - 5.330 - BCS1L_000004 MSCV_0000871 rs121908573 - ; clinVar; Ensembl; 11528392 - - - - - - - - - - - - - - - - - - -
./. - - c.464G>C - r.(?) p.(Arg155Pro) - - - - Unknown - g.219526485G>C - - - BCS1L_000004 MSCV_0000871 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
+/+ - 5/9 c.547C>T - r.? p.? probably_damaging(0.998) missense_variant - deleterious(0) Unknown subst g.219526568C>T - 4.910 - BCS1L_000005 MSCV_0000872 rs144885874 - ; clinVar; Ensembl; 17403714 - - - - - - - - - - - - - - - - - - -
./. - - c.547C>T - r.(?) p.(Arg183Cys) - - - - Unknown - g.219526568C>T - - - BCS1L_000005 MSCV_0000872 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
+/+ - 5/9 c.548G>A - r.? p.? probably_damaging(0.994) missense_variant - deleterious(0) Unknown subst g.219526569G>A - 4.980 - BCS1L_000006 MSCV_0000873 rs121908577 - ; clinVar; Ensembl; 9545407;17314340 - - - - - - - - - - - - - - - - - - -
./. - - c.548G>A - r.(?) p.(Arg183His) - - - - Unknown - g.219526569G>A - - - BCS1L_000006 MSCV_0000873 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
+/+ - 5/9 c.550C>T - r.? p.? probably_damaging(0.953) missense_variant - deleterious(0.01) Unknown subst g.219526571C>T - 5.860 - BCS1L_000007 MSCV_0000874 rs121908578 - ; clinVar; Ensembl; 17314340;17403714 - - - - - - - - - - - - - - - - - - -
./. - - c.550C>T - r.(?) p.(Arg184Cys) - - - - Unknown - g.219526571C>T - - - BCS1L_000007 MSCV_0000874 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.556C>T - r.(?) p.(Arg186*) - - - - Unknown - g.219526577C>T - - - BCS1L_000018 MSCV_0019613 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.598C>T - r.(?) p.(Arg200*) - - - - Unknown - g.219526619C>T - - - BCS1L_000019 MSCV_0019614 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.606_607insA - r.(?) p.(Arg203Lysfs*9) - - - - Unknown - g.219526627_219526628insA - - - BCS1L_000020 MSCV_0019615 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.628G>A - r.(?) p.(Asp210Asn) - - - - Unknown - g.219526649G>A - - - BCS1L_000021 MSCV_0019616 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.655+1G>A - r.spl? p.? - - - - Unknown - g.219526677G>A - - - BCS1L_000022 MSCV_0019617 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.768C>G - r.(=) p.(=) - - - - Unknown - g.219527281C>G - - - BCS1L_000023 MSCV_0019618 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.822G>A - r.(=) p.(=) - - - - Unknown - g.219527335G>A - - - BCS1L_000024 MSCV_0019619 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
+/+ - 7/9 c.830G>A - r.? p.? probably_damaging(0.97) missense_variant - deleterious(0) Unknown subst g.219527343G>A - 5.210 - BCS1L_000008 MSCV_0000875 rs121908571 - ; clinVar; Ensembl; 11528392 - - - - - - - - - - - - - - - - - - -
./. - - c.830G>A - r.(?) p.(Ser277Asn) - - - - Unknown - g.219527343G>A - - - BCS1L_000008 MSCV_0000875 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.871C>T - r.(?) p.(Arg291*) - - - - Unknown - g.219527384C>T - - - BCS1L_000025 MSCV_0019621 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.889+1G>T - r.spl? p.? - - - - Unknown - g.219527403G>T - - - BCS1L_000026 MSCV_0019622 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
?/? - 8/9 c.901T>A - r.? p.? probably_damaging(0.936) missense_variant - deleterious(0.03) Unknown subst g.219527617T>A - 4.940 - BCS1L_000009 MSCV_0000876 - - ; - - - - - - - - - - - - - - - - - - - -
./. - - c.901T>A - r.(?) p.(Tyr301Asn) - - - - Unknown - g.219527617T>A - - - BCS1L_000009 MSCV_0000876 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.970_971insC - r.(?) p.(Arg325Profs*11) - - - - Unknown - g.219527686_219527687insC - - - BCS1L_000027 MSCV_0019624 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
+?/+? - 8/9 c.980T>C - r.? p.? possibly_damaging(0.794) missense_variant - deleterious(0.01) Unknown subst g.219527696T>C - 4.940 - BCS1L_000010 MSCV_0000877 rs386833858 - ; clinVar; Ensembl; 12215968 - - - - - - - - - - - - - - - - - - -
./. - - c.980T>C - r.(?) p.(Val327Ala) - - - - Unknown - g.219527696T>C - - - BCS1L_000010 MSCV_0000877 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.996C>T - r.(=) p.(=) - - - - Unknown - g.219527712C>T - - - BCS1L_000028 MSCV_0019626 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.1017T>C - r.(=) p.(=) - - - - Unknown - g.219527866T>C - - - BCS1L_000029 MSCV_0019627 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
+/+ - 9/9 c.1057G>A - r.? p.? possibly_damaging(0.603) missense_variant - deleterious(0.04) Unknown subst g.219527906G>A - 4.250 - BCS1L_000011 MSCV_0000878 rs121908574 - ; clinVar; Ensembl; 11528392 - - - - - - - - - - - - - - - - - - -
./. - - c.1057G>A - r.(?) p.(Val353Met) - - - - Unknown - g.219527906G>A - - - BCS1L_000011 MSCV_0000878 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.1243_1244del - r.(?) p.(Glu415Valfs*?) - - - - Unknown - g.219528092_219528093del - - - BCS1L_000030 MSCV_0019629 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
Legend  

Variations Associated with Mitochondrial Diseases Gene

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium