View all transcript variants in 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.
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Effect     

Location     

Exon     

AscendingDNA change (cDNA)     

Position     

RNA change     

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

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium