BCS1L - Gene browser

BCS1L

BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone

HCNC Approved Symbol: BCS1L (HGNC:1020)
Genomic Coordinates: 2:218,658,743 - 218,663,443 (2q35)
Synonyms: Hs.6719, BCS, h-BCS, BJS
Disease Associations: This gene is associated with the following 3 diseases in OMIM.

3Patients

In total, 3 patients were diagnosed with a variant in the BCS1L gene.

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

03
Patient count

Abnormal eyebrows: 2 (66.7%)
Patient Count: 2 (66.7%)
% of total patients presenting each phenotype is shown in parentheses.
2 (66.7%)
Alopecia: 2 (66.7%)
Patient Count: 2 (66.7%)
% of total patients presenting each phenotype is shown in parentheses.
2 (66.7%)
Global developmental delay: 2 (66.7%)
Patient Count: 2 (66.7%)
% of total patients presenting each phenotype is shown in parentheses.
2 (66.7%)
Penoscrotal hypospadias: 2 (66.7%)
Patient Count: 2 (66.7%)
% of total patients presenting each phenotype is shown in parentheses.
2 (66.7%)
Spasticity: 2 (66.7%)
Patient Count: 2 (66.7%)
% of total patients presenting each phenotype is shown in parentheses.
2 (66.7%)