View all transcript variants in gene BCS1L

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

17 entries on 1 page. Showing entries 1 - 17.
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Effect     

Location     

Exon     

AscendingDNA change (cDNA)     

Position     

RNA change     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     

Type     

DNA change (genomic) (hg19)     

Published as     

GERP     

Segregation     

DB-ID     

dbSNP ID     

Frequency     

Sources     

Reference     

Variant remarks     

Genetic origin     

Owner     
+?/+? - - c.-50+155T>A - r.? p.? - - - - subst g.219525123T>A - -6.990 - BCS1L_000016 rs386833855 - ; clinVar; 12215968 - - LOVD
+/+ - 3/4 c.103G>C - r.? p.? probably_damaging(0.973) missense_variant - deleterious(0.01) subst g.219525813G>C - 5.460 - BCS1L_000017 rs121908579 - ; clinVar; Ensembl; 17314340 - - LOVD
+/+ - 3/4 c.133C>T - r.? p.? probably_damaging(1) missense_variant - deleterious(0) subst g.219525843C>T - 5.460 - BCS1L_000014 rs121908575 - ; clinVar; Ensembl; 19508421;12910490 - - LOVD
+/+ - 3/4 c.148A>G - r.? p.? probably_damaging(0.976) missense_variant - tolerated(0.07) subst g.219525858A>G - 5.460 - BCS1L_000015 rs121908580 - ; clinVar; Ensembl; 19162478 - - LOVD
+/+ - 3/4 c.166C>T - r.? p.? - stop_gained - - subst g.219525876C>T - 2.230 - BCS1L_000012 rs121908576 - ; clinVar; Ensembl; 12910490 - - LOVD
+/+ - 3/4 c.232A>G - r.? p.? benign(0.364) missense_variant - deleterious(0) subst g.219525942A>G - 5.460 - BCS1L_000013 rs28937590 - ; clinVar; Ensembl; 11528392;12215968 - - LOVD
+/+ - 3/4 c.296C>T - r.? p.? probably_damaging(1) missense_variant - deleterious(0) subst g.219526006C>T - 5.600 - BCS1L_000001 rs121908572 - ; clinVar; Ensembl; 11528392 - - LOVD
+?/+? - - c.320+1G>T - r.spl? p.? - splice_donor_variant - - subst g.219526031G>T - 4.530 - BCS1L_000002 rs386833856 - ; clinVar; Ensembl; 12215968 - - LOVD
+?/+? - 4/9 c.431G>A - r.? p.? benign(0.427) missense_variant - deleterious(0.02) subst g.219526239G>A - 5.330 - BCS1L_000003 rs386833857 - ; clinVar; Ensembl; 12215968 - - LOVD
+/+ - 5/9 c.464G>C - r.? p.? probably_damaging(0.993) missense_variant - deleterious(0) subst g.219526485G>C - 5.330 - BCS1L_000004 rs121908573 - ; clinVar; Ensembl; 11528392 - - LOVD
+/+ - 5/9 c.547C>T - r.? p.? probably_damaging(0.998) missense_variant - deleterious(0) subst g.219526568C>T - 4.910 - BCS1L_000005 rs144885874 - ; clinVar; Ensembl; 17403714 - - LOVD
+/+ - 5/9 c.548G>A - r.? p.? probably_damaging(0.994) missense_variant - deleterious(0) subst g.219526569G>A - 4.980 - BCS1L_000006 rs121908577 - ; clinVar; Ensembl; 9545407;17314340 - - LOVD
+/+ - 5/9 c.550C>T - r.? p.? probably_damaging(0.953) missense_variant - deleterious(0.01) subst g.219526571C>T - 5.860 - BCS1L_000007 rs121908578 - ; clinVar; Ensembl; 17314340;17403714 - - LOVD
+/+ - 7/9 c.830G>A - r.? p.? probably_damaging(0.97) missense_variant - deleterious(0) subst g.219527343G>A - 5.210 - BCS1L_000008 rs121908571 - ; clinVar; Ensembl; 11528392 - - LOVD
?/? - 8/9 c.901T>A - r.? p.? probably_damaging(0.936) missense_variant - deleterious(0.03) subst g.219527617T>A - 4.940 - BCS1L_000009 - - ; - - - LOVD
+?/+? - 8/9 c.980T>C - r.? p.? possibly_damaging(0.794) missense_variant - deleterious(0.01) subst g.219527696T>C - 4.940 - BCS1L_000010 rs386833858 - ; clinVar; Ensembl; 12215968 - - LOVD
+/+ - 9/9 c.1057G>A - r.? p.? possibly_damaging(0.603) missense_variant - deleterious(0.04) subst g.219527906G>A - 4.250 - BCS1L_000011 rs121908574 - ; clinVar; Ensembl; 11528392 - - LOVD
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Variations Associated with Mitochondrial Diseases Gene

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium