Full data view for 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     

Allele     

Type     

DNA change (genomic) (hg19)     

Published as     

GERP     

Segregation     

DB-ID     

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.-50+155T>A - r.? p.? - - - - Unknown subst g.219525123T>A - -6.990 - BCS1L_000016 rs386833855 - ; clinVar; 12215968 - - - - - - - - - - - - - - - - - - -
+/+ - 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 rs121908579 - ; clinVar; Ensembl; 17314340 - - - - - - - - - - - - - - - - - - -
+/+ - 3/4 c.133C>T - r.? p.? probably_damaging(1) missense_variant - deleterious(0) Unknown subst g.219525843C>T - 5.460 - BCS1L_000014 rs121908575 - ; clinVar; Ensembl; 19508421;12910490 - - - - - - - - - - - - - - - - - - -
+/+ - 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 rs121908580 - ; clinVar; Ensembl; 19162478 - - - - - - - - - - - - - - - - - - -
+/+ - 3/4 c.166C>T - r.? p.? - stop_gained - - Unknown subst g.219525876C>T - 2.230 - BCS1L_000012 rs121908576 - ; clinVar; Ensembl; 12910490 - - - - - - - - - - - - - - - - - - -
+/+ - 3/4 c.232A>G - r.? p.? benign(0.364) missense_variant - deleterious(0) Unknown subst g.219525942A>G - 5.460 - BCS1L_000013 rs28937590 - ; clinVar; Ensembl; 11528392;12215968 - - - - - - - - - - - - - - - - - - -
+/+ - 3/4 c.296C>T - r.? p.? probably_damaging(1) missense_variant - deleterious(0) Unknown subst g.219526006C>T - 5.600 - BCS1L_000001 rs121908572 - ; clinVar; Ensembl; 11528392 - - - - - - - - - - - - - - - - - - -
+?/+? - - c.320+1G>T - r.spl? p.? - splice_donor_variant - - Unknown subst g.219526031G>T - 4.530 - BCS1L_000002 rs386833856 - ; clinVar; Ensembl; 12215968 - - - - - - - - - - - - - - - - - - -
+?/+? - 4/9 c.431G>A - r.? p.? benign(0.427) missense_variant - deleterious(0.02) Unknown subst g.219526239G>A - 5.330 - BCS1L_000003 rs386833857 - ; clinVar; Ensembl; 12215968 - - - - - - - - - - - - - - - - - - -
+/+ - 5/9 c.464G>C - r.? p.? probably_damaging(0.993) missense_variant - deleterious(0) Unknown subst g.219526485G>C - 5.330 - BCS1L_000004 rs121908573 - ; clinVar; Ensembl; 11528392 - - - - - - - - - - - - - - - - - - -
+/+ - 5/9 c.547C>T - r.? p.? probably_damaging(0.998) missense_variant - deleterious(0) Unknown subst g.219526568C>T - 4.910 - BCS1L_000005 rs144885874 - ; clinVar; Ensembl; 17403714 - - - - - - - - - - - - - - - - - - -
+/+ - 5/9 c.548G>A - r.? p.? probably_damaging(0.994) missense_variant - deleterious(0) Unknown subst g.219526569G>A - 4.980 - BCS1L_000006 rs121908577 - ; clinVar; Ensembl; 9545407;17314340 - - - - - - - - - - - - - - - - - - -
+/+ - 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 rs121908578 - ; clinVar; Ensembl; 17314340;17403714 - - - - - - - - - - - - - - - - - - -
+/+ - 7/9 c.830G>A - r.? p.? probably_damaging(0.97) missense_variant - deleterious(0) Unknown subst g.219527343G>A - 5.210 - BCS1L_000008 rs121908571 - ; clinVar; Ensembl; 11528392 - - - - - - - - - - - - - - - - - - -
?/? - 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 - - ; - - - - - - - - - - - - - - - - - - - -
+?/+? - 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 rs386833858 - ; clinVar; Ensembl; 12215968 - - - - - - - - - - - - - - - - - - -
+/+ - 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 rs121908574 - ; clinVar; Ensembl; 11528392 - - - - - - - - - - - - - - - - - - -
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Variations Associated with Mitochondrial Diseases Gene

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium