Gene entry
BCS1L
BCS1 ubiquinol-cytochrome c reductase complex chaperone
- Chromosome
- 2
- Cytoband
- 2q35
- Variants (rsID)
- 9
BCS1L is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 2 (region 2q35). Its official name is “BCS1 ubiquinol-cytochrome c reductase complex chaperone”. The reference table lists 9 variants (rsID) for this gene.
Clinically classified variants
9 reference-table entries with clinical significance.
- rs112329020Conflicting interpretationssingle nucleotide variantLeigh syndrome|Mitochondrial complex III deficiency nuclear type 1|GRACILE syndrome
- rs121908578Conflicting interpretationssingle nucleotide variantBjornstad syndrome with mild mitochondrial complex III deficiency|Mitochondrial complex III deficiency nuclear type 1|Leigh syndrome|GRACILE syndrome
- rs144885874Conflicting interpretationssingle nucleotide variantMitochondrial complex III deficiency nuclear type 1|GRACILE syndrome
- rs201454788Conflicting interpretationssingle nucleotide variantBCS1L-Related Disorders|Pili torti-deafness syndrome|GRACILE syndrome
- rs377025174Conflicting interpretationssingle nucleotide variantMitochondrial complex III deficiency nuclear type 1|Inborn genetic diseases|GRACILE syndrome|Pili torti-deafness syndrome|GRACILE syndrome|Mitochondrial complex III deficiency nuclear type 1
- rs121908575Pathogenicsingle nucleotide variantMitochondrial complex III deficiency nuclear type 1
- rs121908576Pathogenicsingle nucleotide variantMitochondrial complex III deficiency nuclear type 1|BCS1L-Related Disorders|GRACILE syndrome|Mitochondrial complex III deficiency nuclear type 1|Pili torti-deafness syndrome|Leigh syndrome|GRACILE syndrome|See cases
- rs121908577Pathogenicsingle nucleotide variantPili torti-deafness syndrome|Leigh syndrome|GRACILE syndrome|Mitochondrial complex III deficiency nuclear type 1
- rs28937590Pathogenicsingle nucleotide variantGRACILE syndrome|Mitochondrial complex III deficiency nuclear type 1|Pili torti-deafness syndrome|Leigh syndrome|GRACILE syndrome|Mitochondrial complex III deficiency nuclear type 1
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.